Name: rs34270799
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs34270799

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:113358518 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.017148 (4539/264690, TOPMED)
A=0.019165 (4793/250094, GnomAD_exome)
A=0.025578 (5762/225276, ALFA) (+ 18 more)
A=0.019862 (2785/140216, GnomAD)
A=0.018828 (2277/120938, ExAC)
A=0.00947 (745/78700, PAGE_STUDY)
A=0.02276 (296/13006, GO-ESP)
A=0.0105 (67/6404, 1000G_30x)
A=0.0100 (50/5008, 1000G)
A=0.0259 (116/4480, Estonian)
A=0.0384 (148/3854, ALSPAC)
A=0.0283 (105/3708, TWINSUK)
A=0.0194 (22/1134, Daghestan)
A=0.019 (19/998, GoNL)
A=0.020 (12/600, NorthernSweden)
A=0.024 (13/534, MGP)
A=0.030 (9/304, FINRISK)
A=0.005 (1/216, Qatari)
A=0.03 (1/40, GENOME_DK)
C=0.5 (3/6, SGDP_PRJ)
A=0.5 (3/6, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ANK2 : Missense Variant
Publications: 2 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	241554	C=0.974797	A=0.025203
European	Sub	198058	C=0.972240	A=0.027760
African	Sub	9872	C=0.9943	A=0.0057
African Others	Sub	370	C=0.997	A=0.003
African American	Sub	9502	C=0.9942	A=0.0058
Asian	Sub	6356	C=1.0000	A=0.0000
East Asian	Sub	4502	C=1.0000	A=0.0000
Other Asian	Sub	1854	C=1.0000	A=0.0000
Latin American 1	Sub	894	C=0.987	A=0.013
Latin American 2	Sub	5160	C=0.9901	A=0.0099
South Asian	Sub	308	C=0.997	A=0.003
Other	Sub	20906	C=0.97752	A=0.02248

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.982852	A=0.017148
gnomAD - Exomes	Global	Study-wide	250094	C=0.980835	A=0.019165
gnomAD - Exomes	European	Sub	134236	C=0.972444	A=0.027556
gnomAD - Exomes	Asian	Sub	48962	C=0.99440	A=0.00560
gnomAD - Exomes	American	Sub	34558	C=0.98767	A=0.01233
gnomAD - Exomes	African	Sub	16210	C=0.99550	A=0.00450
gnomAD - Exomes	Ashkenazi Jewish	Sub	10022	C=0.98134	A=0.01866
gnomAD - Exomes	Other	Sub	6106	C=0.9781	A=0.0219
Allele Frequency Aggregator	Total	Global	225276	C=0.974422	A=0.025578
Allele Frequency Aggregator	European	Sub	188042	C=0.972129	A=0.027871
Allele Frequency Aggregator	Other	Sub	19468	C=0.97781	A=0.02219
Allele Frequency Aggregator	Asian	Sub	6356	C=1.0000	A=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	5160	C=0.9901	A=0.0099
Allele Frequency Aggregator	African	Sub	5048	C=0.9950	A=0.0050
Allele Frequency Aggregator	Latin American 1	Sub	894	C=0.987	A=0.013
Allele Frequency Aggregator	South Asian	Sub	308	C=0.997	A=0.003
gnomAD - Genomes	Global	Study-wide	140216	C=0.980138	A=0.019862
gnomAD - Genomes	European	Sub	75922	C=0.97043	A=0.02957
gnomAD - Genomes	African	Sub	42034	C=0.99424	A=0.00576
gnomAD - Genomes	American	Sub	13654	C=0.98616	A=0.01384
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.9807	A=0.0193
gnomAD - Genomes	East Asian	Sub	3130	C=0.9990	A=0.0010
gnomAD - Genomes	Other	Sub	2152	C=0.9805	A=0.0195
ExAC	Global	Study-wide	120938	C=0.981172	A=0.018828
ExAC	Europe	Sub	73086	C=0.97317	A=0.02683
ExAC	Asian	Sub	25104	C=0.99462	A=0.00538
ExAC	American	Sub	11536	C=0.98873	A=0.01127
ExAC	African	Sub	10306	C=0.99592	A=0.00408
ExAC	Other	Sub	906	C=0.990	A=0.010
The PAGE Study	Global	Study-wide	78700	C=0.99053	A=0.00947
The PAGE Study	AfricanAmerican	Sub	32516	C=0.99391	A=0.00609
The PAGE Study	Mexican	Sub	10810	C=0.98668	A=0.01332
The PAGE Study	Asian	Sub	8316	C=0.9998	A=0.0002
The PAGE Study	PuertoRican	Sub	7918	C=0.9845	A=0.0155
The PAGE Study	NativeHawaiian	Sub	4534	C=0.9907	A=0.0093
The PAGE Study	Cuban	Sub	4230	C=0.9742	A=0.0258
The PAGE Study	Dominican	Sub	3828	C=0.9893	A=0.0107
The PAGE Study	CentralAmerican	Sub	2450	C=0.9869	A=0.0131
The PAGE Study	SouthAmerican	Sub	1982	C=0.9909	A=0.0091
The PAGE Study	NativeAmerican	Sub	1260	C=0.9762	A=0.0238
The PAGE Study	SouthAsian	Sub	856	C=0.993	A=0.007
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.97724	A=0.02276
GO Exome Sequencing Project	European American	Sub	8600	C=0.9683	A=0.0317
GO Exome Sequencing Project	African American	Sub	4406	C=0.9948	A=0.0052
1000Genomes_30x	Global	Study-wide	6404	C=0.9895	A=0.0105
1000Genomes_30x	African	Sub	1786	C=1.0000	A=0.0000
1000Genomes_30x	Europe	Sub	1266	C=0.9652	A=0.0348
1000Genomes_30x	South Asian	Sub	1202	C=0.9933	A=0.0067
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	A=0.0000
1000Genomes_30x	American	Sub	980	C=0.985	A=0.015
1000Genomes	Global	Study-wide	5008	C=0.9900	A=0.0100
1000Genomes	African	Sub	1322	C=1.0000	A=0.0000
1000Genomes	East Asian	Sub	1008	C=1.0000	A=0.0000
1000Genomes	Europe	Sub	1006	C=0.9682	A=0.0318
1000Genomes	South Asian	Sub	978	C=0.994	A=0.006
1000Genomes	American	Sub	694	C=0.983	A=0.017
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9741	A=0.0259
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9616	A=0.0384
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9717	A=0.0283
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	C=0.9806	A=0.0194
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	C=0.970	A=0.030
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=1.000	A=0.000
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.992	A=0.008
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=1.000	A=0.000
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.99	A=0.01
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.97	A=0.03
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.981	A=0.019
Northern Sweden	ACPOP	Study-wide	600	C=0.980	A=0.020
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.976	A=0.024
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.970	A=0.030
Qatari	Global	Study-wide	216	C=0.995	A=0.005
The Danish reference pan genome	Danish	Study-wide	40	C=0.97	A=0.03
SGDP_PRJ	Global	Study-wide	6	C=0.5	A=0.5

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 4	NC_000004.12:g.113358518C>A
GRCh37.p13 chr 4	NC_000004.11:g.114279674C>A
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.545436C>A

Gene: ANK2, ankyrin 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANK2 transcript variant 3	NM_001127493.3:c.4400-230… NM_001127493.3:c.4400-2305C>A	N/A	Intron Variant
ANK2 transcript variant 4	NM_001354225.2:c.4439-230… NM_001354225.2:c.4439-2305C>A	N/A	Intron Variant
ANK2 transcript variant 5	NM_001354228.2:c.4328-230… NM_001354228.2:c.4328-2305C>A	N/A	Intron Variant
ANK2 transcript variant 6	NM_001354230.2:c.4406-230… NM_001354230.2:c.4406-2305C>A	N/A	Intron Variant
ANK2 transcript variant 7	NM_001354231.2:c.4469-230… NM_001354231.2:c.4469-2305C>A	N/A	Intron Variant
ANK2 transcript variant 8	NM_001354232.2:c.4463-230… NM_001354232.2:c.4463-2305C>A	N/A	Intron Variant
ANK2 transcript variant 9	NM_001354235.2:c.4424-230… NM_001354235.2:c.4424-2305C>A	N/A	Intron Variant
ANK2 transcript variant 10	NM_001354236.2:c.4325-230… NM_001354236.2:c.4325-2305C>A	N/A	Intron Variant
ANK2 transcript variant 11	NM_001354237.2:c.4505-230… NM_001354237.2:c.4505-2305C>A	N/A	Intron Variant
ANK2 transcript variant 12	NM_001354239.2:c.4397-230… NM_001354239.2:c.4397-2305C>A	N/A	Intron Variant
ANK2 transcript variant 13	NM_001354240.2:c.4472-230… NM_001354240.2:c.4472-2305C>A	N/A	Intron Variant
ANK2 transcript variant 14	NM_001354241.2:c.4472-230… NM_001354241.2:c.4472-2305C>A	N/A	Intron Variant
ANK2 transcript variant 15	NM_001354242.2:c.4469-230… NM_001354242.2:c.4469-2305C>A	N/A	Intron Variant
ANK2 transcript variant 16	NM_001354243.2:c.4364-230… NM_001354243.2:c.4364-2305C>A	N/A	Intron Variant
ANK2 transcript variant 17	NM_001354244.2:c.4361-230… NM_001354244.2:c.4361-2305C>A	N/A	Intron Variant
ANK2 transcript variant 18	NM_001354245.2:c.4265-230… NM_001354245.2:c.4265-2305C>A	N/A	Intron Variant
ANK2 transcript variant 19	NM_001354246.2:c.4424-230… NM_001354246.2:c.4424-2305C>A	N/A	Intron Variant
ANK2 transcript variant 20	NM_001354249.2:c.4241-230… NM_001354249.2:c.4241-2305C>A	N/A	Intron Variant
ANK2 transcript variant 21	NM_001354252.2:c.4397-230… NM_001354252.2:c.4397-2305C>A	N/A	Intron Variant
ANK2 transcript variant 22	NM_001354253.2:c.4202-230… NM_001354253.2:c.4202-2305C>A	N/A	Intron Variant
ANK2 transcript variant 23	NM_001354254.2:c.4376-230… NM_001354254.2:c.4376-2305C>A	N/A	Intron Variant
ANK2 transcript variant 24	NM_001354255.2:c.4364-230… NM_001354255.2:c.4364-2305C>A	N/A	Intron Variant
ANK2 transcript variant 25	NM_001354256.2:c.4361-230… NM_001354256.2:c.4361-2305C>A	N/A	Intron Variant
ANK2 transcript variant 26	NM_001354257.2:c.4166-230… NM_001354257.2:c.4166-2305C>A	N/A	Intron Variant
ANK2 transcript variant 27	NM_001354258.2:c.4328-230… NM_001354258.2:c.4328-2305C>A	N/A	Intron Variant
ANK2 transcript variant 28	NM_001354260.2:c.4142-230… NM_001354260.2:c.4142-2305C>A	N/A	Intron Variant
ANK2 transcript variant 29	NM_001354261.2:c.4286-230… NM_001354261.2:c.4286-2305C>A	N/A	Intron Variant
ANK2 transcript variant 30	NM_001354262.2:c.4265-230… NM_001354262.2:c.4265-2305C>A	N/A	Intron Variant
ANK2 transcript variant 31	NM_001354264.2:c.4262-230… NM_001354264.2:c.4262-2305C>A	N/A	Intron Variant
ANK2 transcript variant 32	NM_001354265.2:c.4424-230… NM_001354265.2:c.4424-2305C>A	N/A	Intron Variant
ANK2 transcript variant 33	NM_001354266.2:c.4241-230… NM_001354266.2:c.4241-2305C>A	N/A	Intron Variant
ANK2 transcript variant 34	NM_001354267.2:c.4241-230… NM_001354267.2:c.4241-2305C>A	N/A	Intron Variant
ANK2 transcript variant 35	NM_001354268.2:c.4229-230… NM_001354268.2:c.4229-2305C>A	N/A	Intron Variant
ANK2 transcript variant 36	NM_001354269.3:c.4214-230… NM_001354269.3:c.4214-2305C>A	N/A	Intron Variant
ANK2 transcript variant 37	NM_001354270.2:c.4202-230… NM_001354270.2:c.4202-2305C>A	N/A	Intron Variant
ANK2 transcript variant 38	NM_001354271.2:c.4142-230… NM_001354271.2:c.4142-2305C>A	N/A	Intron Variant
ANK2 transcript variant 39	NM_001354272.2:c.4298-230… NM_001354272.2:c.4298-2305C>A	N/A	Intron Variant
ANK2 transcript variant 40	NM_001354273.2:c.4127-230… NM_001354273.2:c.4127-2305C>A	N/A	Intron Variant
ANK2 transcript variant 41	NM_001354274.2:c.4193-230… NM_001354274.2:c.4193-2305C>A	N/A	Intron Variant
ANK2 transcript variant 42	NM_001354275.2:c.4265-230… NM_001354275.2:c.4265-2305C>A	N/A	Intron Variant
ANK2 transcript variant 43	NM_001354276.2:c.4241-230… NM_001354276.2:c.4241-2305C>A	N/A	Intron Variant
ANK2 transcript variant 44	NM_001354277.2:c.4043-230… NM_001354277.2:c.4043-2305C>A	N/A	Intron Variant
ANK2 transcript variant 45	NM_001354278.2:c.1955-230… NM_001354278.2:c.1955-2305C>A	N/A	Intron Variant
ANK2 transcript variant 46	NM_001354279.2:c.1991-230… NM_001354279.2:c.1991-2305C>A	N/A	Intron Variant
ANK2 transcript variant 47	NM_001354280.2:c.1976-230… NM_001354280.2:c.1976-2305C>A	N/A	Intron Variant
ANK2 transcript variant 48	NM_001354281.2:c.1955-230… NM_001354281.2:c.1955-2305C>A	N/A	Intron Variant
ANK2 transcript variant 49	NM_001354282.2:c.1991-230… NM_001354282.2:c.1991-2305C>A	N/A	Intron Variant
ANK2 transcript variant 51	NM_001386143.1:c.4364-230… NM_001386143.1:c.4364-2305C>A	N/A	Intron Variant
ANK2 transcript variant 52	NM_001386144.1:c.4472-230… NM_001386144.1:c.4472-2305C>A	N/A	Intron Variant
ANK2 transcript variant 53	NM_001386146.1:c.4208-230… NM_001386146.1:c.4208-2305C>A	N/A	Intron Variant
ANK2 transcript variant 54	NM_001386147.1:c.4253-230… NM_001386147.1:c.4253-2305C>A	N/A	Intron Variant
ANK2 transcript variant 55	NM_001386148.2:c.4412-230… NM_001386148.2:c.4412-2305C>A	N/A	Intron Variant
ANK2 transcript variant 56	NM_001386149.1:c.4208-230… NM_001386149.1:c.4208-2305C>A	N/A	Intron Variant
ANK2 transcript variant 57	NM_001386150.1:c.4208-230… NM_001386150.1:c.4208-2305C>A	N/A	Intron Variant
ANK2 transcript variant 58	NM_001386151.1:c.4142-230… NM_001386151.1:c.4142-2305C>A	N/A	Intron Variant
ANK2 transcript variant 59	NM_001386152.1:c.4484-230… NM_001386152.1:c.4484-2305C>A	N/A	Intron Variant
ANK2 transcript variant 60	NM_001386153.1:c.4208-230… NM_001386153.1:c.4208-2305C>A	N/A	Intron Variant
ANK2 transcript variant 61	NM_001386154.1:c.4193-230… NM_001386154.1:c.4193-2305C>A	N/A	Intron Variant
ANK2 transcript variant 62	NM_001386156.1:c.4166-230… NM_001386156.1:c.4166-2305C>A	N/A	Intron Variant
ANK2 transcript variant 63	NM_001386157.1:c.4043-230… NM_001386157.1:c.4043-2305C>A	N/A	Intron Variant
ANK2 transcript variant 64	NM_001386158.1:c.3944-230… NM_001386158.1:c.3944-2305C>A	N/A	Intron Variant
ANK2 transcript variant 67	NM_001386160.1:c.4271-230… NM_001386160.1:c.4271-2305C>A	N/A	Intron Variant
ANK2 transcript variant 68	NM_001386161.1:c.4361-230… NM_001386161.1:c.4361-2305C>A	N/A	Intron Variant
ANK2 transcript variant 69	NM_001386162.1:c.4241-230… NM_001386162.1:c.4241-2305C>A	N/A	Intron Variant
ANK2 transcript variant 66	NM_001386167.1:c.827-2305… NM_001386167.1:c.827-2305C>A	N/A	Intron Variant
ANK2 transcript variant 72	NM_001386186.2:c.4412-230… NM_001386186.2:c.4412-2305C>A	N/A	Intron Variant
ANK2 transcript variant 73	NM_001386187.2:c.4292-230… NM_001386187.2:c.4292-2305C>A	N/A	Intron Variant
ANK2 transcript variant 2	NM_020977.5:c.4427-2305C>A	N/A	Intron Variant
ANK2 transcript variant 1	NM_001148.6:c.9900C>A	S [AGC] > R [AGA]	Coding Sequence Variant
ankyrin-2 isoform 1	NP_001139.3:p.Ser3300Arg	S (Ser) > R (Arg)	Missense Variant
ANK2 transcript variant 65	NM_001386166.1:c.6300C>A	S [AGC] > R [AGA]	Coding Sequence Variant
ankyrin-2 isoform 65	NP_001373095.1:p.Ser2100A… NP_001373095.1:p.Ser2100Arg	S (Ser) > R (Arg)	Missense Variant
ANK2 transcript variant 50	NM_001386142.1:c.9666C>A	S [AGC] > R [AGA]	Coding Sequence Variant
ankyrin-2 isoform 50	NP_001373071.1:p.Ser3222A… NP_001373071.1:p.Ser3222Arg	S (Ser) > R (Arg)	Missense Variant
ANK2 transcript variant 71	NM_001386175.1:c.10017C>A	S [AGC] > R [AGA]	Coding Sequence Variant
ankyrin-2 isoform 68	NP_001373104.1:p.Ser3339A… NP_001373104.1:p.Ser3339Arg	S (Ser) > R (Arg)	Missense Variant
ANK2 transcript variant 70	NM_001386174.1:c.10041C>A	S [AGC] > R [AGA]	Coding Sequence Variant
ankyrin-2 isoform 67	NP_001373103.1:p.Ser3347A… NP_001373103.1:p.Ser3347Arg	S (Ser) > R (Arg)	Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 189251 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000171795.7	not specified	Benign
RCV000243731.3	Cardiovascular phenotype	Benign
RCV000311991.10	Long QT syndrome	Benign
RCV000625129.7	Cardiac arrhythmia, ankyrin-B-related	Benign-Likely-Benign
RCV001706113.4	not provided	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	C=	A
GRCh38.p14 chr 4	NC_000004.12:g.113358518=	NC_000004.12:g.113358518C>A
GRCh37.p13 chr 4	NC_000004.11:g.114279674=	NC_000004.11:g.114279674C>A
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.545436=	NG_009006.2:g.545436C>A
ANK2 transcript variant 1	NM_001148.6:c.9900=	NM_001148.6:c.9900C>A
ANK2 transcript variant 1	NM_001148.5:c.9900=	NM_001148.5:c.9900C>A
ANK2 transcript variant 1	NM_001148.4:c.9900=	NM_001148.4:c.9900C>A
ANK2 transcript variant 70	NM_001386174.1:c.10041=	NM_001386174.1:c.10041C>A
ANK2 transcript variant 71	NM_001386175.1:c.10017=	NM_001386175.1:c.10017C>A
ANK2 transcript variant 50	NM_001386142.1:c.9666=	NM_001386142.1:c.9666C>A
ANK2 transcript variant 65	NM_001386166.1:c.6300=	NM_001386166.1:c.6300C>A
ANK2 transcript variant 72	NM_001386173.1:c.9939=	NM_001386173.1:c.9939C>A
ankyrin-2 isoform 1	NP_001139.3:p.Ser3300=	NP_001139.3:p.Ser3300Arg
ankyrin-2 isoform 67	NP_001373103.1:p.Ser3347=	NP_001373103.1:p.Ser3347Arg
ankyrin-2 isoform 68	NP_001373104.1:p.Ser3339=	NP_001373104.1:p.Ser3339Arg
ankyrin-2 isoform 50	NP_001373071.1:p.Ser3222=	NP_001373071.1:p.Ser3222Arg
ankyrin-2 isoform 65	NP_001373095.1:p.Ser2100=	NP_001373095.1:p.Ser2100Arg
ANK2 transcript variant 3	NM_001127493.1:c.4400-2305=	NM_001127493.1:c.4400-2305C>A
ANK2 transcript variant 3	NM_001127493.3:c.4400-2305=	NM_001127493.3:c.4400-2305C>A
ANK2 transcript variant 4	NM_001354225.2:c.4439-2305=	NM_001354225.2:c.4439-2305C>A
ANK2 transcript variant 5	NM_001354228.2:c.4328-2305=	NM_001354228.2:c.4328-2305C>A
ANK2 transcript variant 6	NM_001354230.2:c.4406-2305=	NM_001354230.2:c.4406-2305C>A
ANK2 transcript variant 7	NM_001354231.2:c.4469-2305=	NM_001354231.2:c.4469-2305C>A
ANK2 transcript variant 8	NM_001354232.2:c.4463-2305=	NM_001354232.2:c.4463-2305C>A
ANK2 transcript variant 9	NM_001354235.2:c.4424-2305=	NM_001354235.2:c.4424-2305C>A
ANK2 transcript variant 10	NM_001354236.2:c.4325-2305=	NM_001354236.2:c.4325-2305C>A
ANK2 transcript variant 11	NM_001354237.2:c.4505-2305=	NM_001354237.2:c.4505-2305C>A
ANK2 transcript variant 12	NM_001354239.2:c.4397-2305=	NM_001354239.2:c.4397-2305C>A
ANK2 transcript variant 13	NM_001354240.2:c.4472-2305=	NM_001354240.2:c.4472-2305C>A
ANK2 transcript variant 14	NM_001354241.2:c.4472-2305=	NM_001354241.2:c.4472-2305C>A
ANK2 transcript variant 15	NM_001354242.2:c.4469-2305=	NM_001354242.2:c.4469-2305C>A
ANK2 transcript variant 16	NM_001354243.2:c.4364-2305=	NM_001354243.2:c.4364-2305C>A
ANK2 transcript variant 17	NM_001354244.2:c.4361-2305=	NM_001354244.2:c.4361-2305C>A
ANK2 transcript variant 18	NM_001354245.2:c.4265-2305=	NM_001354245.2:c.4265-2305C>A
ANK2 transcript variant 19	NM_001354246.2:c.4424-2305=	NM_001354246.2:c.4424-2305C>A
ANK2 transcript variant 20	NM_001354249.2:c.4241-2305=	NM_001354249.2:c.4241-2305C>A
ANK2 transcript variant 21	NM_001354252.2:c.4397-2305=	NM_001354252.2:c.4397-2305C>A
ANK2 transcript variant 22	NM_001354253.2:c.4202-2305=	NM_001354253.2:c.4202-2305C>A
ANK2 transcript variant 23	NM_001354254.2:c.4376-2305=	NM_001354254.2:c.4376-2305C>A
ANK2 transcript variant 24	NM_001354255.2:c.4364-2305=	NM_001354255.2:c.4364-2305C>A
ANK2 transcript variant 25	NM_001354256.2:c.4361-2305=	NM_001354256.2:c.4361-2305C>A
ANK2 transcript variant 26	NM_001354257.2:c.4166-2305=	NM_001354257.2:c.4166-2305C>A
ANK2 transcript variant 27	NM_001354258.2:c.4328-2305=	NM_001354258.2:c.4328-2305C>A
ANK2 transcript variant 28	NM_001354260.2:c.4142-2305=	NM_001354260.2:c.4142-2305C>A
ANK2 transcript variant 29	NM_001354261.2:c.4286-2305=	NM_001354261.2:c.4286-2305C>A
ANK2 transcript variant 30	NM_001354262.2:c.4265-2305=	NM_001354262.2:c.4265-2305C>A
ANK2 transcript variant 31	NM_001354264.2:c.4262-2305=	NM_001354264.2:c.4262-2305C>A
ANK2 transcript variant 32	NM_001354265.2:c.4424-2305=	NM_001354265.2:c.4424-2305C>A
ANK2 transcript variant 33	NM_001354266.2:c.4241-2305=	NM_001354266.2:c.4241-2305C>A
ANK2 transcript variant 34	NM_001354267.2:c.4241-2305=	NM_001354267.2:c.4241-2305C>A
ANK2 transcript variant 35	NM_001354268.2:c.4229-2305=	NM_001354268.2:c.4229-2305C>A
ANK2 transcript variant 36	NM_001354269.3:c.4214-2305=	NM_001354269.3:c.4214-2305C>A
ANK2 transcript variant 37	NM_001354270.2:c.4202-2305=	NM_001354270.2:c.4202-2305C>A
ANK2 transcript variant 38	NM_001354271.2:c.4142-2305=	NM_001354271.2:c.4142-2305C>A
ANK2 transcript variant 39	NM_001354272.2:c.4298-2305=	NM_001354272.2:c.4298-2305C>A
ANK2 transcript variant 40	NM_001354273.2:c.4127-2305=	NM_001354273.2:c.4127-2305C>A
ANK2 transcript variant 41	NM_001354274.2:c.4193-2305=	NM_001354274.2:c.4193-2305C>A
ANK2 transcript variant 42	NM_001354275.2:c.4265-2305=	NM_001354275.2:c.4265-2305C>A
ANK2 transcript variant 43	NM_001354276.2:c.4241-2305=	NM_001354276.2:c.4241-2305C>A
ANK2 transcript variant 44	NM_001354277.2:c.4043-2305=	NM_001354277.2:c.4043-2305C>A
ANK2 transcript variant 45	NM_001354278.2:c.1955-2305=	NM_001354278.2:c.1955-2305C>A
ANK2 transcript variant 46	NM_001354279.2:c.1991-2305=	NM_001354279.2:c.1991-2305C>A
ANK2 transcript variant 47	NM_001354280.2:c.1976-2305=	NM_001354280.2:c.1976-2305C>A
ANK2 transcript variant 48	NM_001354281.2:c.1955-2305=	NM_001354281.2:c.1955-2305C>A
ANK2 transcript variant 49	NM_001354282.2:c.1991-2305=	NM_001354282.2:c.1991-2305C>A
ANK2 transcript variant 51	NM_001386143.1:c.4364-2305=	NM_001386143.1:c.4364-2305C>A
ANK2 transcript variant 52	NM_001386144.1:c.4472-2305=	NM_001386144.1:c.4472-2305C>A
ANK2 transcript variant 53	NM_001386146.1:c.4208-2305=	NM_001386146.1:c.4208-2305C>A
ANK2 transcript variant 54	NM_001386147.1:c.4253-2305=	NM_001386147.1:c.4253-2305C>A
ANK2 transcript variant 55	NM_001386148.2:c.4412-2305=	NM_001386148.2:c.4412-2305C>A
ANK2 transcript variant 56	NM_001386149.1:c.4208-2305=	NM_001386149.1:c.4208-2305C>A
ANK2 transcript variant 57	NM_001386150.1:c.4208-2305=	NM_001386150.1:c.4208-2305C>A
ANK2 transcript variant 58	NM_001386151.1:c.4142-2305=	NM_001386151.1:c.4142-2305C>A
ANK2 transcript variant 59	NM_001386152.1:c.4484-2305=	NM_001386152.1:c.4484-2305C>A
ANK2 transcript variant 60	NM_001386153.1:c.4208-2305=	NM_001386153.1:c.4208-2305C>A
ANK2 transcript variant 61	NM_001386154.1:c.4193-2305=	NM_001386154.1:c.4193-2305C>A
ANK2 transcript variant 62	NM_001386156.1:c.4166-2305=	NM_001386156.1:c.4166-2305C>A
ANK2 transcript variant 63	NM_001386157.1:c.4043-2305=	NM_001386157.1:c.4043-2305C>A
ANK2 transcript variant 64	NM_001386158.1:c.3944-2305=	NM_001386158.1:c.3944-2305C>A
ANK2 transcript variant 67	NM_001386160.1:c.4271-2305=	NM_001386160.1:c.4271-2305C>A
ANK2 transcript variant 68	NM_001386161.1:c.4361-2305=	NM_001386161.1:c.4361-2305C>A
ANK2 transcript variant 69	NM_001386162.1:c.4241-2305=	NM_001386162.1:c.4241-2305C>A
ANK2 transcript variant 66	NM_001386167.1:c.827-2305=	NM_001386167.1:c.827-2305C>A
ANK2 transcript variant 72	NM_001386186.2:c.4412-2305=	NM_001386186.2:c.4412-2305C>A
ANK2 transcript variant 73	NM_001386187.2:c.4292-2305=	NM_001386187.2:c.4292-2305C>A
ANK2 transcript variant 2	NM_020977.3:c.4427-2305=	NM_020977.3:c.4427-2305C>A
ANK2 transcript variant 2	NM_020977.5:c.4427-2305=	NM_020977.5:c.4427-2305C>A
ANK2 transcript variant X6	XM_005262946.1:c.4427-2305=	XM_005262946.1:c.4427-2305C>A
ANK2 transcript variant X7	XM_005262947.1:c.4460-2305=	XM_005262947.1:c.4460-2305C>A
ANK2 transcript variant X8	XM_005262948.1:c.4424-2305=	XM_005262948.1:c.4424-2305C>A
ANK2 transcript variant X9	XM_005262949.1:c.4391-2305=	XM_005262949.1:c.4391-2305C>A
ANK2 transcript variant X10	XM_005262950.1:c.4460-2305=	XM_005262950.1:c.4460-2305C>A

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

80 SubSNP, 20 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	APPLERA_GI	ss48420591	Mar 13, 2006 (126)
2	PFIZERPG	ss51855902	Mar 16, 2006 (126)
3	PERLEGEN	ss68908554	May 16, 2007 (127)
4	ILLUMINA	ss120037044	Dec 01, 2009 (131)
5	ILLUMINA	ss161080808	Dec 01, 2009 (131)
6	1000GENOMES	ss232550684	Jul 14, 2010 (132)
7	ILLUMINA	ss244267330	Jul 04, 2010 (132)
8	NHLBI-ESP	ss342170101	May 09, 2011 (134)
9	ILLUMINA	ss479426588	Sep 08, 2015 (146)
10	ILLUMINA	ss483754458	May 04, 2012 (137)
11	ILLUMINA	ss484676953	May 04, 2012 (137)
12	1000GENOMES	ss490893447	May 04, 2012 (137)
13	EXOME_CHIP	ss491359861	May 04, 2012 (137)
14	CLINSEQ_SNP	ss491858911	May 04, 2012 (137)
15	ILLUMINA	ss535954000	Sep 08, 2015 (146)
16	ILLUMINA	ss779515790	Sep 08, 2015 (146)
17	ILLUMINA	ss780831887	Sep 08, 2015 (146)
18	ILLUMINA	ss782320800	Sep 08, 2015 (146)
19	ILLUMINA	ss783514858	Sep 08, 2015 (146)
20	ILLUMINA	ss834986211	Sep 08, 2015 (146)
21	EVA-GONL	ss980553032	Aug 21, 2014 (142)
22	1000GENOMES	ss1311358631	Aug 21, 2014 (142)
23	HAMMER_LAB	ss1397386102	Sep 08, 2015 (146)
24	EVA_GENOME_DK	ss1580725732	Apr 01, 2015 (144)
25	EVA_FINRISK	ss1584035926	Apr 01, 2015 (144)
26	EVA_DECODE	ss1590058468	Apr 01, 2015 (144)
27	EVA_UK10K_ALSPAC	ss1610939623	Apr 01, 2015 (144)
28	EVA_UK10K_TWINSUK	ss1653933656	Apr 01, 2015 (144)
29	EVA_EXAC	ss1687613418	Apr 01, 2015 (144)
30	EVA_MGP	ss1711069652	Apr 01, 2015 (144)
31	ILLUMINA	ss1752493373	Sep 08, 2015 (146)
32	ILLUMINA	ss1917783980	Feb 12, 2016 (147)
33	WEILL_CORNELL_DGM	ss1923791112	Feb 12, 2016 (147)
34	ILLUMINA	ss1946125230	Feb 12, 2016 (147)
35	ILLUMINA	ss1958713804	Feb 12, 2016 (147)
36	JJLAB	ss2022480013	Sep 14, 2016 (149)
37	HUMAN_LONGEVITY	ss2266217058	Dec 20, 2016 (150)
38	ILLUMINA	ss2634165317	Nov 08, 2017 (151)
39	GNOMAD	ss2734696737	Nov 08, 2017 (151)
40	GNOMAD	ss2747292413	Nov 08, 2017 (151)
41	GNOMAD	ss2813953047	Nov 08, 2017 (151)
42	AFFY	ss2985301437	Nov 08, 2017 (151)
43	SWEGEN	ss2995366123	Nov 08, 2017 (151)
44	CSHL	ss3345905047	Nov 08, 2017 (151)
45	ILLUMINA	ss3629044639	Oct 12, 2018 (152)
46	ILLUMINA	ss3629044640	Oct 12, 2018 (152)
47	ILLUMINA	ss3632099081	Oct 12, 2018 (152)
48	ILLUMINA	ss3634967086	Oct 12, 2018 (152)
49	ILLUMINA	ss3636671905	Oct 12, 2018 (152)
50	ILLUMINA	ss3640674379	Oct 12, 2018 (152)
51	ILLUMINA	ss3644858053	Oct 12, 2018 (152)
52	OMUKHERJEE_ADBS	ss3646311671	Oct 12, 2018 (152)
53	ILLUMINA	ss3654073137	Oct 12, 2018 (152)
54	EGCUT_WGS	ss3663267343	Jul 13, 2019 (153)
55	EVA_DECODE	ss3712841867	Jul 13, 2019 (153)
56	ACPOP	ss3731505812	Jul 13, 2019 (153)
57	ILLUMINA	ss3744528996	Jul 13, 2019 (153)
58	ILLUMINA	ss3745267343	Jul 13, 2019 (153)
59	PAGE_CC	ss3771148208	Jul 13, 2019 (153)
60	ILLUMINA	ss3772761840	Jul 13, 2019 (153)
61	EVA	ss3824041294	Apr 26, 2020 (154)
62	EVA	ss3825663164	Apr 26, 2020 (154)
63	EVA	ss3828749049	Apr 26, 2020 (154)
64	SGDP_PRJ	ss3859810976	Apr 26, 2020 (154)
65	FSA-LAB	ss3984292139	Apr 27, 2021 (155)
66	EVA	ss3986289904	Apr 27, 2021 (155)
67	TOPMED	ss4628021357	Apr 27, 2021 (155)
68	EVA	ss5237642715	Oct 17, 2022 (156)
69	1000G_HIGH_COVERAGE	ss5260619330	Oct 17, 2022 (156)
70	EVA	ss5351577411	Oct 17, 2022 (156)
71	HUGCELL_USP	ss5459224421	Oct 17, 2022 (156)
72	1000G_HIGH_COVERAGE	ss5542461830	Oct 17, 2022 (156)
73	SANFORD_IMAGENETICS	ss5624565111	Oct 17, 2022 (156)
74	SANFORD_IMAGENETICS	ss5635854011	Oct 17, 2022 (156)
75	EVA	ss5844552380	Oct 17, 2022 (156)
76	EVA	ss5848022247	Oct 17, 2022 (156)
77	EVA	ss5848615455	Oct 17, 2022 (156)
78	EVA	ss5865054821	Oct 17, 2022 (156)
79	EVA	ss5964254695	Oct 17, 2022 (156)
80	EVA	ss5979711630	Oct 17, 2022 (156)
81	1000Genomes	NC_000004.11 - 114279674	Oct 12, 2018 (152)
82	1000Genomes_30x	NC_000004.12 - 113358518	Oct 17, 2022 (156)
83	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 114279674	Oct 12, 2018 (152)
84	Genome-wide autozygosity in Daghestan	NC_000004.10 - 114499123	Apr 26, 2020 (154)
85	Genetic variation in the Estonian population	NC_000004.11 - 114279674	Oct 12, 2018 (152)
86	ExAC	NC_000004.11 - 114279674	Oct 12, 2018 (152)
87	FINRISK	NC_000004.11 - 114279674	Apr 26, 2020 (154)
88	The Danish reference pan genome	NC_000004.11 - 114279674	Apr 26, 2020 (154)
89	gnomAD - Genomes	NC_000004.12 - 113358518	Apr 27, 2021 (155)
90	gnomAD - Exomes	NC_000004.11 - 114279674	Jul 13, 2019 (153)
91	GO Exome Sequencing Project	NC_000004.11 - 114279674	Oct 12, 2018 (152)
92	Genome of the Netherlands Release 5	NC_000004.11 - 114279674	Apr 26, 2020 (154)
93	Medical Genome Project healthy controls from Spanish population	NC_000004.11 - 114279674	Apr 26, 2020 (154)
94	Northern Sweden	NC_000004.11 - 114279674	Jul 13, 2019 (153)
95	The PAGE Study	NC_000004.12 - 113358518	Jul 13, 2019 (153)
96	Qatari	NC_000004.11 - 114279674	Apr 26, 2020 (154)
97	SGDP_PRJ	NC_000004.11 - 114279674	Apr 26, 2020 (154)
98	TopMed	NC_000004.12 - 113358518	Apr 27, 2021 (155)
99	UK 10K study - Twins	NC_000004.11 - 114279674	Oct 12, 2018 (152)
100	ALFA	NC_000004.12 - 113358518	Apr 27, 2021 (155)
101	ClinVar	RCV000171795.7	Oct 17, 2022 (156)
102	ClinVar	RCV000243731.3	Oct 17, 2022 (156)
103	ClinVar	RCV000311991.10	Oct 17, 2022 (156)
104	ClinVar	RCV000625129.7	Oct 17, 2022 (156)
105	ClinVar	RCV001706113.4	Oct 17, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs36210418	Oct 25, 2006 (127)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
361466, ss484676953, ss491858911, ss1397386102, ss1590058468	NC_000004.10:114499122:C:A	NC_000004.12:113358517:C:A	(self)
22815392, 12695431, 9005591, 7588259, 32387, 6890671, 3806138, 499486, 5614057, 185412, 4790677, 5833042, 11827956, 12695431, ss232550684, ss342170101, ss479426588, ss483754458, ss490893447, ss491359861, ss535954000, ss779515790, ss780831887, ss782320800, ss783514858, ss834986211, ss980553032, ss1311358631, ss1580725732, ss1584035926, ss1610939623, ss1653933656, ss1687613418, ss1711069652, ss1752493373, ss1917783980, ss1923791112, ss1946125230, ss1958713804, ss2022480013, ss2634165317, ss2734696737, ss2747292413, ss2813953047, ss2985301437, ss2995366123, ss3345905047, ss3629044639, ss3629044640, ss3632099081, ss3634967086, ss3636671905, ss3640674379, ss3644858053, ss3646311671, ss3654073137, ss3663267343, ss3731505812, ss3744528996, ss3745267343, ss3772761840, ss3824041294, ss3825663164, ss3828749049, ss3859810976, ss3984292139, ss3986289904, ss5351577411, ss5624565111, ss5635854011, ss5844552380, ss5848022247, ss5848615455, ss5964254695, ss5979711630	NC_000004.11:114279673:C:A	NC_000004.12:113358517:C:A	(self)
RCV000171795.7, RCV000243731.3, RCV000311991.10, RCV000625129.7, RCV001706113.4, 29987765, 161646723, 369677, 465398913, 2880360890, ss2266217058, ss3712841867, ss3771148208, ss4628021357, ss5237642715, ss5260619330, ss5459224421, ss5542461830, ss5865054821	NC_000004.12:113358517:C:A	NC_000004.12:113358517:C:A	(self)
ss48420591, ss51855902, ss68908554, ss120037044, ss161080808, ss244267330	NT_016354.19:38827394:C:A	NC_000004.12:113358517:C:A	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs34270799

PMID	Title	Author	Year	Journal
23861362	Interpreting secondary cardiac disease variants in an exome cohort.	Ng D et al.	2013	Circulation. Cardiovascular genetics
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs34270799