Name: rs29391
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.

rs29391

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:113276874 (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: G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.209207 (55375/264690, TOPMED)
C=0.215217 (30120/139952, GnomAD)
C=0.11112 (3140/28258, 14KJPN) (+ 17 more)
C=0.18687 (3530/18890, ALFA)
C=0.11271 (1889/16760, 8.3KJPN)
C=0.1997 (1279/6404, 1000G_30x)
C=0.1959 (981/5008, 1000G)
C=0.1583 (709/4480, Estonian)
C=0.1510 (582/3854, ALSPAC)
C=0.1556 (577/3708, TWINSUK)
C=0.1188 (348/2930, KOREAN)
C=0.1266 (232/1832, Korea1K)
C=0.176 (176/998, GoNL)
C=0.193 (116/600, NorthernSweden)
C=0.252 (83/330, HapMap)
C=0.148 (32/216, Qatari)
C=0.052 (11/210, Vietnamese)
G=0.426 (75/176, SGDP_PRJ)
C=0.15 (6/40, GENOME_DK)
G=0.43 (6/14, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ANK2 : Intron Variant
Publications: 0 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	18890	G=0.81313	C=0.18687
European	Sub	14286	G=0.84453	C=0.15547
African	Sub	2946	G=0.6507	C=0.3493
African Others	Sub	114	G=0.614	C=0.386
African American	Sub	2832	G=0.6522	C=0.3478
Asian	Sub	112	G=0.982	C=0.018
East Asian	Sub	86	G=0.98	C=0.02
Other Asian	Sub	26	G=1.00	C=0.00
Latin American 1	Sub	146	G=0.753	C=0.247
Latin American 2	Sub	610	G=0.848	C=0.152
South Asian	Sub	98	G=0.83	C=0.17
Other	Sub	692	G=0.809	C=0.191

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.790793	C=0.209207
gnomAD - Genomes	Global	Study-wide	139952	G=0.784783	C=0.215217
gnomAD - Genomes	European	Sub	75854	G=0.83591	C=0.16409
gnomAD - Genomes	African	Sub	41864	G=0.65581	C=0.34419
gnomAD - Genomes	American	Sub	13640	G=0.84260	C=0.15740
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.8365	C=0.1635
gnomAD - Genomes	East Asian	Sub	3124	G=0.9459	C=0.0541
gnomAD - Genomes	Other	Sub	2148	G=0.8115	C=0.1885
14KJPN	JAPANESE	Study-wide	28258	G=0.88888	C=0.11112
Allele Frequency Aggregator	Total	Global	18890	G=0.81313	C=0.18687
Allele Frequency Aggregator	European	Sub	14286	G=0.84453	C=0.15547
Allele Frequency Aggregator	African	Sub	2946	G=0.6507	C=0.3493
Allele Frequency Aggregator	Other	Sub	692	G=0.809	C=0.191
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.848	C=0.152
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.753	C=0.247
Allele Frequency Aggregator	Asian	Sub	112	G=0.982	C=0.018
Allele Frequency Aggregator	South Asian	Sub	98	G=0.83	C=0.17
8.3KJPN	JAPANESE	Study-wide	16760	G=0.88729	C=0.11271
1000Genomes_30x	Global	Study-wide	6404	G=0.8003	C=0.1997
1000Genomes_30x	African	Sub	1786	G=0.6181	C=0.3819
1000Genomes_30x	Europe	Sub	1266	G=0.8460	C=0.1540
1000Genomes_30x	South Asian	Sub	1202	G=0.8652	C=0.1348
1000Genomes_30x	East Asian	Sub	1170	G=0.9402	C=0.0598
1000Genomes_30x	American	Sub	980	G=0.827	C=0.173
1000Genomes	Global	Study-wide	5008	G=0.8041	C=0.1959
1000Genomes	African	Sub	1322	G=0.6188	C=0.3812
1000Genomes	East Asian	Sub	1008	G=0.9375	C=0.0625
1000Genomes	Europe	Sub	1006	G=0.8449	C=0.1551
1000Genomes	South Asian	Sub	978	G=0.860	C=0.140
1000Genomes	American	Sub	694	G=0.826	C=0.174
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8417	C=0.1583
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8490	C=0.1510
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8444	C=0.1556
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.8812	C=0.1188
Korean Genome Project	KOREAN	Study-wide	1832	G=0.8734	C=0.1266
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.824	C=0.176
Northern Sweden	ACPOP	Study-wide	600	G=0.807	C=0.193
HapMap	Global	Study-wide	330	G=0.748	C=0.252
HapMap	African	Sub	120	G=0.625	C=0.375
HapMap	American	Sub	120	G=0.842	C=0.158
HapMap	Asian	Sub	90	G=0.79	C=0.21
Qatari	Global	Study-wide	216	G=0.852	C=0.148
A Vietnamese Genetic Variation Database	Global	Study-wide	210	G=0.948	C=0.052
SGDP_PRJ	Global	Study-wide	176	G=0.426	C=0.574
The Danish reference pan genome	Danish	Study-wide	40	G=0.85	C=0.15
Siberian	Global	Study-wide	14	G=0.43	C=0.57

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.113276874G>C
GRCh38.p14 chr 4	NC_000004.12:g.113276874G>T
GRCh37.p13 chr 4	NC_000004.11:g.114198030G>C
GRCh37.p13 chr 4	NC_000004.11:g.114198030G>T
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.463792G>C
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.463792G>T

Gene: ANK2, ankyrin 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANK2 transcript variant 3	NM_001127493.3:c.1621-963… NM_001127493.3:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 1	NM_001148.6:c.1684-963G>C	N/A	Intron Variant
ANK2 transcript variant 4	NM_001354225.2:c.1684-963… NM_001354225.2:c.1684-963G>C	N/A	Intron Variant
ANK2 transcript variant 5	NM_001354228.2:c.1684-963… NM_001354228.2:c.1684-963G>C	N/A	Intron Variant
ANK2 transcript variant 6	NM_001354230.2:c.1729-963… NM_001354230.2:c.1729-963G>C	N/A	Intron Variant
ANK2 transcript variant 7	NM_001354231.2:c.1729-963… NM_001354231.2:c.1729-963G>C	N/A	Intron Variant
ANK2 transcript variant 8	NM_001354232.2:c.1684-963… NM_001354232.2:c.1684-963G>C	N/A	Intron Variant
ANK2 transcript variant 9	NM_001354235.2:c.1684-963… NM_001354235.2:c.1684-963G>C	N/A	Intron Variant
ANK2 transcript variant 10	NM_001354236.2:c.1684-963… NM_001354236.2:c.1684-963G>C	N/A	Intron Variant
ANK2 transcript variant 11	NM_001354237.2:c.1729-963… NM_001354237.2:c.1729-963G>C	N/A	Intron Variant
ANK2 transcript variant 12	NM_001354239.2:c.1621-963… NM_001354239.2:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 13	NM_001354240.2:c.1729-963… NM_001354240.2:c.1729-963G>C	N/A	Intron Variant
ANK2 transcript variant 14	NM_001354241.2:c.1729-963… NM_001354241.2:c.1729-963G>C	N/A	Intron Variant
ANK2 transcript variant 15	NM_001354242.2:c.1729-963… NM_001354242.2:c.1729-963G>C	N/A	Intron Variant
ANK2 transcript variant 16	NM_001354243.2:c.1621-963… NM_001354243.2:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 17	NM_001354244.2:c.1621-963… NM_001354244.2:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 18	NM_001354245.2:c.1684-963… NM_001354245.2:c.1684-963G>C	N/A	Intron Variant
ANK2 transcript variant 19	NM_001354246.2:c.1684-963… NM_001354246.2:c.1684-963G>C	N/A	Intron Variant
ANK2 transcript variant 20	NM_001354249.2:c.1597-963… NM_001354249.2:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 21	NM_001354252.2:c.1621-963… NM_001354252.2:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 22	NM_001354253.2:c.1621-963… NM_001354253.2:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 23	NM_001354254.2:c.1621-963… NM_001354254.2:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 24	NM_001354255.2:c.1621-963… NM_001354255.2:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 25	NM_001354256.2:c.1621-963… NM_001354256.2:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 26	NM_001354257.2:c.1621-963… NM_001354257.2:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 27	NM_001354258.2:c.1684-963… NM_001354258.2:c.1684-963G>C	N/A	Intron Variant
ANK2 transcript variant 28	NM_001354260.2:c.1597-963… NM_001354260.2:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 29	NM_001354261.2:c.1642-963… NM_001354261.2:c.1642-963G>C	N/A	Intron Variant
ANK2 transcript variant 30	NM_001354262.2:c.1621-963… NM_001354262.2:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 31	NM_001354264.2:c.1597-963… NM_001354264.2:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 32	NM_001354265.2:c.1684-963… NM_001354265.2:c.1684-963G>C	N/A	Intron Variant
ANK2 transcript variant 33	NM_001354266.2:c.1597-963… NM_001354266.2:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 34	NM_001354267.2:c.1597-963… NM_001354267.2:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 35	NM_001354268.2:c.1684-963… NM_001354268.2:c.1684-963G>C	N/A	Intron Variant
ANK2 transcript variant 36	NM_001354269.3:c.1474-963… NM_001354269.3:c.1474-963G>C	N/A	Intron Variant
ANK2 transcript variant 37	NM_001354270.2:c.1621-963… NM_001354270.2:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 38	NM_001354271.2:c.1597-963… NM_001354271.2:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 39	NM_001354272.2:c.1621-963… NM_001354272.2:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 40	NM_001354273.2:c.1486-963… NM_001354273.2:c.1486-963G>C	N/A	Intron Variant
ANK2 transcript variant 41	NM_001354274.2:c.1597-963… NM_001354274.2:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 42	NM_001354275.2:c.1621-963… NM_001354275.2:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 43	NM_001354276.2:c.1597-963… NM_001354276.2:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 44	NM_001354277.2:c.1399-963… NM_001354277.2:c.1399-963G>C	N/A	Intron Variant
ANK2 transcript variant 50	NM_001386142.1:c.1597-963… NM_001386142.1:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 51	NM_001386143.1:c.1621-963… NM_001386143.1:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 52	NM_001386144.1:c.1729-963… NM_001386144.1:c.1729-963G>C	N/A	Intron Variant
ANK2 transcript variant 53	NM_001386146.1:c.1597-963… NM_001386146.1:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 54	NM_001386147.1:c.1642-963… NM_001386147.1:c.1642-963G>C	N/A	Intron Variant
ANK2 transcript variant 55	NM_001386148.2:c.1672-963… NM_001386148.2:c.1672-963G>C	N/A	Intron Variant
ANK2 transcript variant 56	NM_001386149.1:c.1597-963… NM_001386149.1:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 57	NM_001386150.1:c.1597-963… NM_001386150.1:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 58	NM_001386151.1:c.1597-963… NM_001386151.1:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 59	NM_001386152.1:c.1729-963… NM_001386152.1:c.1729-963G>C	N/A	Intron Variant
ANK2 transcript variant 60	NM_001386153.1:c.1597-963… NM_001386153.1:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 61	NM_001386154.1:c.1597-963… NM_001386154.1:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 62	NM_001386156.1:c.1621-963… NM_001386156.1:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 63	NM_001386157.1:c.1399-963… NM_001386157.1:c.1399-963G>C	N/A	Intron Variant
ANK2 transcript variant 64	NM_001386158.1:c.1399-963… NM_001386158.1:c.1399-963G>C	N/A	Intron Variant
ANK2 transcript variant 67	NM_001386160.1:c.1642-963… NM_001386160.1:c.1642-963G>C	N/A	Intron Variant
ANK2 transcript variant 68	NM_001386161.1:c.1621-963… NM_001386161.1:c.1621-963G>C	N/A	Intron Variant
ANK2 transcript variant 69	NM_001386162.1:c.1597-963… NM_001386162.1:c.1597-963G>C	N/A	Intron Variant
ANK2 transcript variant 70	NM_001386174.1:c.1735-963… NM_001386174.1:c.1735-963G>C	N/A	Intron Variant
ANK2 transcript variant 71	NM_001386175.1:c.1711-963… NM_001386175.1:c.1711-963G>C	N/A	Intron Variant
ANK2 transcript variant 72	NM_001386186.2:c.1672-963… NM_001386186.2:c.1672-963G>C	N/A	Intron Variant
ANK2 transcript variant 73	NM_001386187.2:c.1648-963… NM_001386187.2:c.1648-963G>C	N/A	Intron Variant
ANK2 transcript variant 2	NM_020977.5:c.1684-963G>C	N/A	Intron Variant
ANK2 transcript variant 45	NM_001354278.2:c.	N/A	Genic Upstream Transcript Variant
ANK2 transcript variant 46	NM_001354279.2:c.	N/A	Genic Upstream Transcript Variant
ANK2 transcript variant 47	NM_001354280.2:c.	N/A	Genic Upstream Transcript Variant
ANK2 transcript variant 48	NM_001354281.2:c.	N/A	Genic Upstream Transcript Variant
ANK2 transcript variant 49	NM_001354282.2:c.	N/A	Genic Upstream Transcript Variant
ANK2 transcript variant 65	NM_001386166.1:c.	N/A	Genic Upstream Transcript Variant
ANK2 transcript variant 66	NM_001386167.1:c.	N/A	Genic Upstream Transcript 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.

Not Reported in ClinVar

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	G=	C	T
GRCh38.p14 chr 4	NC_000004.12:g.113276874=	NC_000004.12:g.113276874G>C	NC_000004.12:g.113276874G>T
GRCh37.p13 chr 4	NC_000004.11:g.114198030=	NC_000004.11:g.114198030G>C	NC_000004.11:g.114198030G>T
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.463792=	NG_009006.2:g.463792G>C	NG_009006.2:g.463792G>T
ANK2 transcript variant 3	NM_001127493.1:c.1621-963=	NM_001127493.1:c.1621-963G>C	NM_001127493.1:c.1621-963G>T
ANK2 transcript variant 3	NM_001127493.3:c.1621-963=	NM_001127493.3:c.1621-963G>C	NM_001127493.3:c.1621-963G>T
ANK2 transcript variant 1	NM_001148.4:c.1684-963=	NM_001148.4:c.1684-963G>C	NM_001148.4:c.1684-963G>T
ANK2 transcript variant 1	NM_001148.6:c.1684-963=	NM_001148.6:c.1684-963G>C	NM_001148.6:c.1684-963G>T
ANK2 transcript variant 4	NM_001354225.2:c.1684-963=	NM_001354225.2:c.1684-963G>C	NM_001354225.2:c.1684-963G>T
ANK2 transcript variant 5	NM_001354228.2:c.1684-963=	NM_001354228.2:c.1684-963G>C	NM_001354228.2:c.1684-963G>T
ANK2 transcript variant 6	NM_001354230.2:c.1729-963=	NM_001354230.2:c.1729-963G>C	NM_001354230.2:c.1729-963G>T
ANK2 transcript variant 7	NM_001354231.2:c.1729-963=	NM_001354231.2:c.1729-963G>C	NM_001354231.2:c.1729-963G>T
ANK2 transcript variant 8	NM_001354232.2:c.1684-963=	NM_001354232.2:c.1684-963G>C	NM_001354232.2:c.1684-963G>T
ANK2 transcript variant 9	NM_001354235.2:c.1684-963=	NM_001354235.2:c.1684-963G>C	NM_001354235.2:c.1684-963G>T
ANK2 transcript variant 10	NM_001354236.2:c.1684-963=	NM_001354236.2:c.1684-963G>C	NM_001354236.2:c.1684-963G>T
ANK2 transcript variant 11	NM_001354237.2:c.1729-963=	NM_001354237.2:c.1729-963G>C	NM_001354237.2:c.1729-963G>T
ANK2 transcript variant 12	NM_001354239.2:c.1621-963=	NM_001354239.2:c.1621-963G>C	NM_001354239.2:c.1621-963G>T
ANK2 transcript variant 13	NM_001354240.2:c.1729-963=	NM_001354240.2:c.1729-963G>C	NM_001354240.2:c.1729-963G>T
ANK2 transcript variant 14	NM_001354241.2:c.1729-963=	NM_001354241.2:c.1729-963G>C	NM_001354241.2:c.1729-963G>T
ANK2 transcript variant 15	NM_001354242.2:c.1729-963=	NM_001354242.2:c.1729-963G>C	NM_001354242.2:c.1729-963G>T
ANK2 transcript variant 16	NM_001354243.2:c.1621-963=	NM_001354243.2:c.1621-963G>C	NM_001354243.2:c.1621-963G>T
ANK2 transcript variant 17	NM_001354244.2:c.1621-963=	NM_001354244.2:c.1621-963G>C	NM_001354244.2:c.1621-963G>T
ANK2 transcript variant 18	NM_001354245.2:c.1684-963=	NM_001354245.2:c.1684-963G>C	NM_001354245.2:c.1684-963G>T
ANK2 transcript variant 19	NM_001354246.2:c.1684-963=	NM_001354246.2:c.1684-963G>C	NM_001354246.2:c.1684-963G>T
ANK2 transcript variant 20	NM_001354249.2:c.1597-963=	NM_001354249.2:c.1597-963G>C	NM_001354249.2:c.1597-963G>T
ANK2 transcript variant 21	NM_001354252.2:c.1621-963=	NM_001354252.2:c.1621-963G>C	NM_001354252.2:c.1621-963G>T
ANK2 transcript variant 22	NM_001354253.2:c.1621-963=	NM_001354253.2:c.1621-963G>C	NM_001354253.2:c.1621-963G>T
ANK2 transcript variant 23	NM_001354254.2:c.1621-963=	NM_001354254.2:c.1621-963G>C	NM_001354254.2:c.1621-963G>T
ANK2 transcript variant 24	NM_001354255.2:c.1621-963=	NM_001354255.2:c.1621-963G>C	NM_001354255.2:c.1621-963G>T
ANK2 transcript variant 25	NM_001354256.2:c.1621-963=	NM_001354256.2:c.1621-963G>C	NM_001354256.2:c.1621-963G>T
ANK2 transcript variant 26	NM_001354257.2:c.1621-963=	NM_001354257.2:c.1621-963G>C	NM_001354257.2:c.1621-963G>T
ANK2 transcript variant 27	NM_001354258.2:c.1684-963=	NM_001354258.2:c.1684-963G>C	NM_001354258.2:c.1684-963G>T
ANK2 transcript variant 28	NM_001354260.2:c.1597-963=	NM_001354260.2:c.1597-963G>C	NM_001354260.2:c.1597-963G>T
ANK2 transcript variant 29	NM_001354261.2:c.1642-963=	NM_001354261.2:c.1642-963G>C	NM_001354261.2:c.1642-963G>T
ANK2 transcript variant 30	NM_001354262.2:c.1621-963=	NM_001354262.2:c.1621-963G>C	NM_001354262.2:c.1621-963G>T
ANK2 transcript variant 31	NM_001354264.2:c.1597-963=	NM_001354264.2:c.1597-963G>C	NM_001354264.2:c.1597-963G>T
ANK2 transcript variant 32	NM_001354265.2:c.1684-963=	NM_001354265.2:c.1684-963G>C	NM_001354265.2:c.1684-963G>T
ANK2 transcript variant 33	NM_001354266.2:c.1597-963=	NM_001354266.2:c.1597-963G>C	NM_001354266.2:c.1597-963G>T
ANK2 transcript variant 34	NM_001354267.2:c.1597-963=	NM_001354267.2:c.1597-963G>C	NM_001354267.2:c.1597-963G>T
ANK2 transcript variant 35	NM_001354268.2:c.1684-963=	NM_001354268.2:c.1684-963G>C	NM_001354268.2:c.1684-963G>T
ANK2 transcript variant 36	NM_001354269.3:c.1474-963=	NM_001354269.3:c.1474-963G>C	NM_001354269.3:c.1474-963G>T
ANK2 transcript variant 37	NM_001354270.2:c.1621-963=	NM_001354270.2:c.1621-963G>C	NM_001354270.2:c.1621-963G>T
ANK2 transcript variant 38	NM_001354271.2:c.1597-963=	NM_001354271.2:c.1597-963G>C	NM_001354271.2:c.1597-963G>T
ANK2 transcript variant 39	NM_001354272.2:c.1621-963=	NM_001354272.2:c.1621-963G>C	NM_001354272.2:c.1621-963G>T
ANK2 transcript variant 40	NM_001354273.2:c.1486-963=	NM_001354273.2:c.1486-963G>C	NM_001354273.2:c.1486-963G>T
ANK2 transcript variant 41	NM_001354274.2:c.1597-963=	NM_001354274.2:c.1597-963G>C	NM_001354274.2:c.1597-963G>T
ANK2 transcript variant 42	NM_001354275.2:c.1621-963=	NM_001354275.2:c.1621-963G>C	NM_001354275.2:c.1621-963G>T
ANK2 transcript variant 43	NM_001354276.2:c.1597-963=	NM_001354276.2:c.1597-963G>C	NM_001354276.2:c.1597-963G>T
ANK2 transcript variant 44	NM_001354277.2:c.1399-963=	NM_001354277.2:c.1399-963G>C	NM_001354277.2:c.1399-963G>T
ANK2 transcript variant 50	NM_001386142.1:c.1597-963=	NM_001386142.1:c.1597-963G>C	NM_001386142.1:c.1597-963G>T
ANK2 transcript variant 51	NM_001386143.1:c.1621-963=	NM_001386143.1:c.1621-963G>C	NM_001386143.1:c.1621-963G>T
ANK2 transcript variant 52	NM_001386144.1:c.1729-963=	NM_001386144.1:c.1729-963G>C	NM_001386144.1:c.1729-963G>T
ANK2 transcript variant 53	NM_001386146.1:c.1597-963=	NM_001386146.1:c.1597-963G>C	NM_001386146.1:c.1597-963G>T
ANK2 transcript variant 54	NM_001386147.1:c.1642-963=	NM_001386147.1:c.1642-963G>C	NM_001386147.1:c.1642-963G>T
ANK2 transcript variant 55	NM_001386148.2:c.1672-963=	NM_001386148.2:c.1672-963G>C	NM_001386148.2:c.1672-963G>T
ANK2 transcript variant 56	NM_001386149.1:c.1597-963=	NM_001386149.1:c.1597-963G>C	NM_001386149.1:c.1597-963G>T
ANK2 transcript variant 57	NM_001386150.1:c.1597-963=	NM_001386150.1:c.1597-963G>C	NM_001386150.1:c.1597-963G>T
ANK2 transcript variant 58	NM_001386151.1:c.1597-963=	NM_001386151.1:c.1597-963G>C	NM_001386151.1:c.1597-963G>T
ANK2 transcript variant 59	NM_001386152.1:c.1729-963=	NM_001386152.1:c.1729-963G>C	NM_001386152.1:c.1729-963G>T
ANK2 transcript variant 60	NM_001386153.1:c.1597-963=	NM_001386153.1:c.1597-963G>C	NM_001386153.1:c.1597-963G>T
ANK2 transcript variant 61	NM_001386154.1:c.1597-963=	NM_001386154.1:c.1597-963G>C	NM_001386154.1:c.1597-963G>T
ANK2 transcript variant 62	NM_001386156.1:c.1621-963=	NM_001386156.1:c.1621-963G>C	NM_001386156.1:c.1621-963G>T
ANK2 transcript variant 63	NM_001386157.1:c.1399-963=	NM_001386157.1:c.1399-963G>C	NM_001386157.1:c.1399-963G>T
ANK2 transcript variant 64	NM_001386158.1:c.1399-963=	NM_001386158.1:c.1399-963G>C	NM_001386158.1:c.1399-963G>T
ANK2 transcript variant 67	NM_001386160.1:c.1642-963=	NM_001386160.1:c.1642-963G>C	NM_001386160.1:c.1642-963G>T
ANK2 transcript variant 68	NM_001386161.1:c.1621-963=	NM_001386161.1:c.1621-963G>C	NM_001386161.1:c.1621-963G>T
ANK2 transcript variant 69	NM_001386162.1:c.1597-963=	NM_001386162.1:c.1597-963G>C	NM_001386162.1:c.1597-963G>T
ANK2 transcript variant 70	NM_001386174.1:c.1735-963=	NM_001386174.1:c.1735-963G>C	NM_001386174.1:c.1735-963G>T
ANK2 transcript variant 71	NM_001386175.1:c.1711-963=	NM_001386175.1:c.1711-963G>C	NM_001386175.1:c.1711-963G>T
ANK2 transcript variant 72	NM_001386186.2:c.1672-963=	NM_001386186.2:c.1672-963G>C	NM_001386186.2:c.1672-963G>T
ANK2 transcript variant 73	NM_001386187.2:c.1648-963=	NM_001386187.2:c.1648-963G>C	NM_001386187.2:c.1648-963G>T
ANK2 transcript variant 2	NM_020977.3:c.1684-963=	NM_020977.3:c.1684-963G>C	NM_020977.3:c.1684-963G>T
ANK2 transcript variant 2	NM_020977.5:c.1684-963=	NM_020977.5:c.1684-963G>C	NM_020977.5:c.1684-963G>T
ANK2 transcript variant X1	XM_005262941.1:c.1780-963=	XM_005262941.1:c.1780-963G>C	XM_005262941.1:c.1780-963G>T
ANK2 transcript variant X2	XM_005262942.1:c.1780-963=	XM_005262942.1:c.1780-963G>C	XM_005262942.1:c.1780-963G>T
ANK2 transcript variant X3	XM_005262943.1:c.1780-963=	XM_005262943.1:c.1780-963G>C	XM_005262943.1:c.1780-963G>T
ANK2 transcript variant X4	XM_005262944.1:c.1780-963=	XM_005262944.1:c.1780-963G>C	XM_005262944.1:c.1780-963G>T
ANK2 transcript variant X4	XM_005262945.1:c.1684-963=	XM_005262945.1:c.1684-963G>C	XM_005262945.1:c.1684-963G>T
ANK2 transcript variant X6	XM_005262946.1:c.1780-963=	XM_005262946.1:c.1780-963G>C	XM_005262946.1:c.1780-963G>T
ANK2 transcript variant X7	XM_005262947.1:c.1780-963=	XM_005262947.1:c.1780-963G>C	XM_005262947.1:c.1780-963G>T
ANK2 transcript variant X8	XM_005262948.1:c.1780-963=	XM_005262948.1:c.1780-963G>C	XM_005262948.1:c.1780-963G>T
ANK2 transcript variant X9	XM_005262949.1:c.1780-963=	XM_005262949.1:c.1780-963G>C	XM_005262949.1:c.1780-963G>T
ANK2 transcript variant X10	XM_005262950.1:c.1780-963=	XM_005262950.1:c.1780-963G>C	XM_005262950.1:c.1780-963G>T
ANK2 transcript variant X11	XM_005262951.1:c.1756-963=	XM_005262951.1:c.1756-963G>C	XM_005262951.1:c.1756-963G>T

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#.

64 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ACEVAN	ss28992	May 08, 2000 (76)
2	ACEVAN	ss4254340	Jan 04, 2002 (102)
3	CSHL-HAPMAP	ss17806140	Feb 27, 2004 (120)
4	PERLEGEN	ss23722254	Sep 20, 2004 (123)
5	ABI	ss44493443	Mar 15, 2006 (126)
6	KRIBB_YJKIM	ss80743743	Dec 14, 2007 (130)
7	BCMHGSC_JDW	ss92734259	Mar 24, 2008 (129)
8	1000GENOMES	ss108238090	Jan 23, 2009 (130)
9	1000GENOMES	ss110424110	Jan 24, 2009 (130)
10	ENSEMBL	ss139826948	Dec 01, 2009 (131)
11	ENSEMBL	ss161486444	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss164098303	Jul 04, 2010 (132)
13	BUSHMAN	ss199036544	Jul 04, 2010 (132)
14	BCM-HGSC-SUB	ss206483256	Jul 04, 2010 (132)
15	1000GENOMES	ss221148252	Jul 14, 2010 (132)
16	1000GENOMES	ss232550461	Jul 14, 2010 (132)
17	1000GENOMES	ss239807729	Jul 15, 2010 (132)
18	GMI	ss475659927	May 04, 2012 (137)
19	TISHKOFF	ss557780885	Apr 25, 2013 (138)
20	SSMP	ss651584998	Apr 25, 2013 (138)
21	EVA-GONL	ss980552512	Aug 21, 2014 (142)
22	JMKIDD_LAB	ss1071861251	Aug 21, 2014 (142)
23	1000GENOMES	ss1311356543	Aug 21, 2014 (142)
24	DDI	ss1430011593	Apr 01, 2015 (144)
25	EVA_GENOME_DK	ss1580725522	Apr 01, 2015 (144)
26	EVA_UK10K_ALSPAC	ss1610938523	Apr 01, 2015 (144)
27	EVA_UK10K_TWINSUK	ss1653932556	Apr 01, 2015 (144)
28	HAMMER_LAB	ss1802035545	Sep 08, 2015 (146)
29	WEILL_CORNELL_DGM	ss1923790625	Feb 12, 2016 (147)
30	GENOMED	ss1969838914	Jul 19, 2016 (147)
31	JJLAB	ss2022479760	Sep 14, 2016 (149)
32	USC_VALOUEV	ss2150610389	Dec 20, 2016 (150)
33	HUMAN_LONGEVITY	ss2266212644	Dec 20, 2016 (150)
34	GRF	ss2706090963	Nov 08, 2017 (151)
35	GNOMAD	ss2813947284	Nov 08, 2017 (151)
36	SWEGEN	ss2995365373	Nov 08, 2017 (151)
37	BIOINF_KMB_FNS_UNIBA	ss3025015237	Nov 08, 2017 (151)
38	CSHL	ss3345904824	Nov 08, 2017 (151)
39	EGCUT_WGS	ss3663266468	Jul 13, 2019 (153)
40	EVA_DECODE	ss3712840920	Jul 13, 2019 (153)
41	ACPOP	ss3731505397	Jul 13, 2019 (153)
42	EVA	ss3762275865	Jul 13, 2019 (153)
43	PACBIO	ss3784827047	Jul 13, 2019 (153)
44	PACBIO	ss3790267653	Jul 13, 2019 (153)
45	PACBIO	ss3795143035	Jul 13, 2019 (153)
46	KHV_HUMAN_GENOMES	ss3805425051	Jul 13, 2019 (153)
47	EVA	ss3828748857	Apr 26, 2020 (154)
48	SGDP_PRJ	ss3859810012	Apr 26, 2020 (154)
49	KRGDB	ss3906101548	Apr 26, 2020 (154)
50	KOGIC	ss3954912805	Apr 26, 2020 (154)
51	TOPMED	ss4628003051	Apr 27, 2021 (155)
52	TOMMO_GENOMICS	ss5167495572	Apr 27, 2021 (155)
53	1000G_HIGH_COVERAGE	ss5260617630	Oct 17, 2022 (156)
54	EVA	ss5351574042	Oct 17, 2022 (156)
55	HUGCELL_USP	ss5459222900	Oct 17, 2022 (156)
56	EVA	ss5507678235	Oct 17, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5542459152	Oct 17, 2022 (156)
58	SANFORD_IMAGENETICS	ss5635853069	Oct 17, 2022 (156)
59	TOMMO_GENOMICS	ss5702346215	Oct 17, 2022 (156)
60	YY_MCH	ss5805433360	Oct 17, 2022 (156)
61	EVA	ss5844551723	Oct 17, 2022 (156)
62	EVA	ss5854394132	Oct 17, 2022 (156)
63	EVA	ss5865052702	Oct 17, 2022 (156)
64	EVA	ss5964253613	Oct 17, 2022 (156)
65	1000Genomes	NC_000004.11 - 114198030	Oct 12, 2018 (152)
66	1000Genomes_30x	NC_000004.12 - 113276874	Oct 17, 2022 (156)
67	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 114198030	Oct 12, 2018 (152)
68	Genetic variation in the Estonian population	NC_000004.11 - 114198030	Oct 12, 2018 (152)
69	The Danish reference pan genome	NC_000004.11 - 114198030	Apr 26, 2020 (154)
70	gnomAD - Genomes	NC_000004.12 - 113276874	Apr 27, 2021 (155)
71	Genome of the Netherlands Release 5	NC_000004.11 - 114198030	Apr 26, 2020 (154)
72	HapMap	NC_000004.12 - 113276874	Apr 26, 2020 (154)
73	KOREAN population from KRGDB	NC_000004.11 - 114198030	Apr 26, 2020 (154)
74	Korean Genome Project	NC_000004.12 - 113276874	Apr 26, 2020 (154)
75	Northern Sweden	NC_000004.11 - 114198030	Jul 13, 2019 (153)
76	Qatari	NC_000004.11 - 114198030	Apr 26, 2020 (154)
77	SGDP_PRJ	NC_000004.11 - 114198030	Apr 26, 2020 (154)
78	Siberian	NC_000004.11 - 114198030	Apr 26, 2020 (154)
79	8.3KJPN	NC_000004.11 - 114198030	Apr 27, 2021 (155)
80	14KJPN	NC_000004.12 - 113276874	Oct 17, 2022 (156)
81	TopMed	NC_000004.12 - 113276874	Apr 27, 2021 (155)
82	UK 10K study - Twins	NC_000004.11 - 114198030	Oct 12, 2018 (152)
83	A Vietnamese Genetic Variation Database	NC_000004.11 - 114198030	Jul 13, 2019 (153)
84	ALFA	NC_000004.12 - 113276874	Apr 27, 2021 (155)

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)
rs57485955	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss92734259, ss108238090, ss110424110, ss164098303, ss199036544, ss206483256, ss475659927	NC_000004.10:114417478:G:C	NC_000004.12:113276873:G:C	(self)
22813240, 12694239, 9004716, 6890461, 5613544, 13278942, 4790262, 5832555, 11826992, 3126743, 25464879, 12694239, 2790591, ss221148252, ss232550461, ss239807729, ss557780885, ss651584998, ss980552512, ss1071861251, ss1311356543, ss1430011593, ss1580725522, ss1610938523, ss1653932556, ss1802035545, ss1923790625, ss1969838914, ss2022479760, ss2150610389, ss2706090963, ss2813947284, ss2995365373, ss3345904824, ss3663266468, ss3731505397, ss3762275865, ss3784827047, ss3790267653, ss3795143035, ss3828748857, ss3859810012, ss3906101548, ss5167495572, ss5351574042, ss5507678235, ss5635853069, ss5844551723, ss5964253613	NC_000004.11:114198029:G:C	NC_000004.12:113276873:G:C	(self)
29985087, 161632079, 2687521, 11290806, 36183319, 465380607, 11987297574, ss2266212644, ss3025015237, ss3712840920, ss3805425051, ss3954912805, ss4628003051, ss5260617630, ss5459222900, ss5542459152, ss5702346215, ss5805433360, ss5854394132, ss5865052702	NC_000004.12:113276873:G:C	NC_000004.12:113276873:G:C	(self)
ss17806140	NT_016354.16:38693159:G:C	NC_000004.12:113276873:G:C	(self)
ss28992, ss4254340, ss23722254, ss44493443, ss80743743, ss139826948, ss161486444	NT_016354.19:38745750:G:C	NC_000004.12:113276873:G:C	(self)
ss2266212644	NC_000004.12:113276873:G:T	NC_000004.12:113276873:G:T	(self)

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

No publications for rs29391

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

rs29391