Name: rs29379
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.

rs29379

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:113281111 (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>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.003090 (818/264690, TOPMED)
A=0.002967 (416/140230, GnomAD)
A=0.00250 (36/14420, ALFA) (+ 2 more)
A=0.0042 (27/6404, 1000G_30x)
A=0.0038 (19/5008, 1000G)

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	14420	G=0.99750	A=0.00250
European	Sub	9824	G=1.0000	A=0.0000
African	Sub	2946	G=0.9895	A=0.0105
African Others	Sub	114	G=0.991	A=0.009
African American	Sub	2832	G=0.9894	A=0.0106
Asian	Sub	112	G=1.000	A=0.000
East Asian	Sub	86	G=1.00	A=0.00
Other Asian	Sub	26	G=1.00	A=0.00
Latin American 1	Sub	146	G=1.000	A=0.000
Latin American 2	Sub	610	G=1.000	A=0.000
South Asian	Sub	98	G=1.00	A=0.00
Other	Sub	684	G=0.993	A=0.007

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	G=0.996910	A=0.003090
gnomAD - Genomes	Global	Study-wide	140230	G=0.997033	A=0.002967
gnomAD - Genomes	European	Sub	75936	G=0.99997	A=0.00003
gnomAD - Genomes	African	Sub	42040	G=0.99058	A=0.00942
gnomAD - Genomes	American	Sub	13648	G=0.99897	A=0.00103
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=1.0000	A=0.0000
gnomAD - Genomes	East Asian	Sub	3132	G=1.0000	A=0.0000
gnomAD - Genomes	Other	Sub	2152	G=0.9981	A=0.0019
Allele Frequency Aggregator	Total	Global	14420	G=0.99750	A=0.00250
Allele Frequency Aggregator	European	Sub	9824	G=1.0000	A=0.0000
Allele Frequency Aggregator	African	Sub	2946	G=0.9895	A=0.0105
Allele Frequency Aggregator	Other	Sub	684	G=0.993	A=0.007
Allele Frequency Aggregator	Latin American 2	Sub	610	G=1.000	A=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	G=1.000	A=0.000
Allele Frequency Aggregator	Asian	Sub	112	G=1.000	A=0.000
Allele Frequency Aggregator	South Asian	Sub	98	G=1.00	A=0.00
1000Genomes_30x	Global	Study-wide	6404	G=0.9958	A=0.0042
1000Genomes_30x	African	Sub	1786	G=0.9860	A=0.0140
1000Genomes_30x	Europe	Sub	1266	G=1.0000	A=0.0000
1000Genomes_30x	South Asian	Sub	1202	G=1.0000	A=0.0000
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	A=0.0000
1000Genomes_30x	American	Sub	980	G=0.998	A=0.002
1000Genomes	Global	Study-wide	5008	G=0.9962	A=0.0038
1000Genomes	African	Sub	1322	G=0.9871	A=0.0129
1000Genomes	East Asian	Sub	1008	G=1.0000	A=0.0000
1000Genomes	Europe	Sub	1006	G=1.0000	A=0.0000
1000Genomes	South Asian	Sub	978	G=1.000	A=0.000
1000Genomes	American	Sub	694	G=0.997	A=0.003

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.113281111G>A
GRCh37.p13 chr 4	NC_000004.11:g.114202267G>A
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.468029G>A

Gene: ANK2, ankyrin 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANK2 transcript variant 3	NM_001127493.3:c.1819-156… NM_001127493.3:c.1819-1564G>A	N/A	Intron Variant
ANK2 transcript variant 1	NM_001148.6:c.1882-1564G>A	N/A	Intron Variant
ANK2 transcript variant 4	NM_001354225.2:c.1882-156… NM_001354225.2:c.1882-1564G>A	N/A	Intron Variant
ANK2 transcript variant 5	NM_001354228.2:c.1882-156… NM_001354228.2:c.1882-1564G>A	N/A	Intron Variant
ANK2 transcript variant 6	NM_001354230.2:c.1927-156… NM_001354230.2:c.1927-1564G>A	N/A	Intron Variant
ANK2 transcript variant 7	NM_001354231.2:c.1927-156… NM_001354231.2:c.1927-1564G>A	N/A	Intron Variant
ANK2 transcript variant 8	NM_001354232.2:c.1882-156… NM_001354232.2:c.1882-1564G>A	N/A	Intron Variant
ANK2 transcript variant 9	NM_001354235.2:c.1882-156… NM_001354235.2:c.1882-1564G>A	N/A	Intron Variant
ANK2 transcript variant 10	NM_001354236.2:c.1882-156… NM_001354236.2:c.1882-1564G>A	N/A	Intron Variant
ANK2 transcript variant 11	NM_001354237.2:c.1927-156… NM_001354237.2:c.1927-1564G>A	N/A	Intron Variant
ANK2 transcript variant 12	NM_001354239.2:c.1819-156… NM_001354239.2:c.1819-1564G>A	N/A	Intron Variant
ANK2 transcript variant 13	NM_001354240.2:c.1927-156… NM_001354240.2:c.1927-1564G>A	N/A	Intron Variant
ANK2 transcript variant 14	NM_001354241.2:c.1927-156… NM_001354241.2:c.1927-1564G>A	N/A	Intron Variant
ANK2 transcript variant 15	NM_001354242.2:c.1927-156… NM_001354242.2:c.1927-1564G>A	N/A	Intron Variant
ANK2 transcript variant 16	NM_001354243.2:c.1819-156… NM_001354243.2:c.1819-1564G>A	N/A	Intron Variant
ANK2 transcript variant 17	NM_001354244.2:c.1819-156… NM_001354244.2:c.1819-1564G>A	N/A	Intron Variant
ANK2 transcript variant 18	NM_001354245.2:c.1783-156… NM_001354245.2:c.1783-1564G>A	N/A	Intron Variant
ANK2 transcript variant 19	NM_001354246.2:c.1882-156… NM_001354246.2:c.1882-1564G>A	N/A	Intron Variant
ANK2 transcript variant 20	NM_001354249.2:c.1795-156… NM_001354249.2:c.1795-1564G>A	N/A	Intron Variant
ANK2 transcript variant 21	NM_001354252.2:c.1819-156… NM_001354252.2:c.1819-1564G>A	N/A	Intron Variant
ANK2 transcript variant 22	NM_001354253.2:c.1720-156… NM_001354253.2:c.1720-1564G>A	N/A	Intron Variant
ANK2 transcript variant 23	NM_001354254.2:c.1819-156… NM_001354254.2:c.1819-1564G>A	N/A	Intron Variant
ANK2 transcript variant 24	NM_001354255.2:c.1819-156… NM_001354255.2:c.1819-1564G>A	N/A	Intron Variant
ANK2 transcript variant 25	NM_001354256.2:c.1819-156… NM_001354256.2:c.1819-1564G>A	N/A	Intron Variant
ANK2 transcript variant 26	NM_001354257.2:c.1720-156… NM_001354257.2:c.1720-1564G>A	N/A	Intron Variant
ANK2 transcript variant 27	NM_001354258.2:c.1882-156… NM_001354258.2:c.1882-1564G>A	N/A	Intron Variant
ANK2 transcript variant 28	NM_001354260.2:c.1696-156… NM_001354260.2:c.1696-1564G>A	N/A	Intron Variant
ANK2 transcript variant 29	NM_001354261.2:c.1840-156… NM_001354261.2:c.1840-1564G>A	N/A	Intron Variant
ANK2 transcript variant 30	NM_001354262.2:c.1819-156… NM_001354262.2:c.1819-1564G>A	N/A	Intron Variant
ANK2 transcript variant 31	NM_001354264.2:c.1795-156… NM_001354264.2:c.1795-1564G>A	N/A	Intron Variant
ANK2 transcript variant 32	NM_001354265.2:c.1882-156… NM_001354265.2:c.1882-1564G>A	N/A	Intron Variant
ANK2 transcript variant 33	NM_001354266.2:c.1795-156… NM_001354266.2:c.1795-1564G>A	N/A	Intron Variant
ANK2 transcript variant 34	NM_001354267.2:c.1795-156… NM_001354267.2:c.1795-1564G>A	N/A	Intron Variant
ANK2 transcript variant 35	NM_001354268.2:c.1783-156… NM_001354268.2:c.1783-1564G>A	N/A	Intron Variant
ANK2 transcript variant 36	NM_001354269.3:c.1672-156… NM_001354269.3:c.1672-1564G>A	N/A	Intron Variant
ANK2 transcript variant 37	NM_001354270.2:c.1720-156… NM_001354270.2:c.1720-1564G>A	N/A	Intron Variant
ANK2 transcript variant 38	NM_001354271.2:c.1696-156… NM_001354271.2:c.1696-1564G>A	N/A	Intron Variant
ANK2 transcript variant 39	NM_001354272.2:c.1819-156… NM_001354272.2:c.1819-1564G>A	N/A	Intron Variant
ANK2 transcript variant 40	NM_001354273.2:c.1684-156… NM_001354273.2:c.1684-1564G>A	N/A	Intron Variant
ANK2 transcript variant 41	NM_001354274.2:c.1795-156… NM_001354274.2:c.1795-1564G>A	N/A	Intron Variant
ANK2 transcript variant 42	NM_001354275.2:c.1819-156… NM_001354275.2:c.1819-1564G>A	N/A	Intron Variant
ANK2 transcript variant 43	NM_001354276.2:c.1795-156… NM_001354276.2:c.1795-1564G>A	N/A	Intron Variant
ANK2 transcript variant 44	NM_001354277.2:c.1597-156… NM_001354277.2:c.1597-1564G>A	N/A	Intron Variant
ANK2 transcript variant 50	NM_001386142.1:c.1795-156… NM_001386142.1:c.1795-1564G>A	N/A	Intron Variant
ANK2 transcript variant 51	NM_001386143.1:c.1819-156… NM_001386143.1:c.1819-1564G>A	N/A	Intron Variant
ANK2 transcript variant 52	NM_001386144.1:c.1927-156… NM_001386144.1:c.1927-1564G>A	N/A	Intron Variant
ANK2 transcript variant 53	NM_001386146.1:c.1795-156… NM_001386146.1:c.1795-1564G>A	N/A	Intron Variant
ANK2 transcript variant 54	NM_001386147.1:c.1840-156… NM_001386147.1:c.1840-1564G>A	N/A	Intron Variant
ANK2 transcript variant 55	NM_001386148.2:c.1870-156… NM_001386148.2:c.1870-1564G>A	N/A	Intron Variant
ANK2 transcript variant 56	NM_001386149.1:c.1795-156… NM_001386149.1:c.1795-1564G>A	N/A	Intron Variant
ANK2 transcript variant 57	NM_001386150.1:c.1795-156… NM_001386150.1:c.1795-1564G>A	N/A	Intron Variant
ANK2 transcript variant 58	NM_001386151.1:c.1696-156… NM_001386151.1:c.1696-1564G>A	N/A	Intron Variant
ANK2 transcript variant 59	NM_001386152.1:c.1927-156… NM_001386152.1:c.1927-1564G>A	N/A	Intron Variant
ANK2 transcript variant 60	NM_001386153.1:c.1795-156… NM_001386153.1:c.1795-1564G>A	N/A	Intron Variant
ANK2 transcript variant 61	NM_001386154.1:c.1795-156… NM_001386154.1:c.1795-1564G>A	N/A	Intron Variant
ANK2 transcript variant 62	NM_001386156.1:c.1720-156… NM_001386156.1:c.1720-1564G>A	N/A	Intron Variant
ANK2 transcript variant 63	NM_001386157.1:c.1597-156… NM_001386157.1:c.1597-1564G>A	N/A	Intron Variant
ANK2 transcript variant 64	NM_001386158.1:c.1498-156… NM_001386158.1:c.1498-1564G>A	N/A	Intron Variant
ANK2 transcript variant 67	NM_001386160.1:c.1840-156… NM_001386160.1:c.1840-1564G>A	N/A	Intron Variant
ANK2 transcript variant 68	NM_001386161.1:c.1819-156… NM_001386161.1:c.1819-1564G>A	N/A	Intron Variant
ANK2 transcript variant 69	NM_001386162.1:c.1795-156… NM_001386162.1:c.1795-1564G>A	N/A	Intron Variant
ANK2 transcript variant 70	NM_001386174.1:c.1933-156… NM_001386174.1:c.1933-1564G>A	N/A	Intron Variant
ANK2 transcript variant 71	NM_001386175.1:c.1909-156… NM_001386175.1:c.1909-1564G>A	N/A	Intron Variant
ANK2 transcript variant 72	NM_001386186.2:c.1870-156… NM_001386186.2:c.1870-1564G>A	N/A	Intron Variant
ANK2 transcript variant 73	NM_001386187.2:c.1846-156… NM_001386187.2:c.1846-1564G>A	N/A	Intron Variant
ANK2 transcript variant 2	NM_020977.5:c.1882-1564G>A	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=	A
GRCh38.p14 chr 4	NC_000004.12:g.113281111=	NC_000004.12:g.113281111G>A
GRCh37.p13 chr 4	NC_000004.11:g.114202267=	NC_000004.11:g.114202267G>A
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.468029=	NG_009006.2:g.468029G>A
ANK2 transcript variant 3	NM_001127493.1:c.1819-1564=	NM_001127493.1:c.1819-1564G>A
ANK2 transcript variant 3	NM_001127493.3:c.1819-1564=	NM_001127493.3:c.1819-1564G>A
ANK2 transcript variant 1	NM_001148.4:c.1882-1564=	NM_001148.4:c.1882-1564G>A
ANK2 transcript variant 1	NM_001148.6:c.1882-1564=	NM_001148.6:c.1882-1564G>A
ANK2 transcript variant 4	NM_001354225.2:c.1882-1564=	NM_001354225.2:c.1882-1564G>A
ANK2 transcript variant 5	NM_001354228.2:c.1882-1564=	NM_001354228.2:c.1882-1564G>A
ANK2 transcript variant 6	NM_001354230.2:c.1927-1564=	NM_001354230.2:c.1927-1564G>A
ANK2 transcript variant 7	NM_001354231.2:c.1927-1564=	NM_001354231.2:c.1927-1564G>A
ANK2 transcript variant 8	NM_001354232.2:c.1882-1564=	NM_001354232.2:c.1882-1564G>A
ANK2 transcript variant 9	NM_001354235.2:c.1882-1564=	NM_001354235.2:c.1882-1564G>A
ANK2 transcript variant 10	NM_001354236.2:c.1882-1564=	NM_001354236.2:c.1882-1564G>A
ANK2 transcript variant 11	NM_001354237.2:c.1927-1564=	NM_001354237.2:c.1927-1564G>A
ANK2 transcript variant 12	NM_001354239.2:c.1819-1564=	NM_001354239.2:c.1819-1564G>A
ANK2 transcript variant 13	NM_001354240.2:c.1927-1564=	NM_001354240.2:c.1927-1564G>A
ANK2 transcript variant 14	NM_001354241.2:c.1927-1564=	NM_001354241.2:c.1927-1564G>A
ANK2 transcript variant 15	NM_001354242.2:c.1927-1564=	NM_001354242.2:c.1927-1564G>A
ANK2 transcript variant 16	NM_001354243.2:c.1819-1564=	NM_001354243.2:c.1819-1564G>A
ANK2 transcript variant 17	NM_001354244.2:c.1819-1564=	NM_001354244.2:c.1819-1564G>A
ANK2 transcript variant 18	NM_001354245.2:c.1783-1564=	NM_001354245.2:c.1783-1564G>A
ANK2 transcript variant 19	NM_001354246.2:c.1882-1564=	NM_001354246.2:c.1882-1564G>A
ANK2 transcript variant 20	NM_001354249.2:c.1795-1564=	NM_001354249.2:c.1795-1564G>A
ANK2 transcript variant 21	NM_001354252.2:c.1819-1564=	NM_001354252.2:c.1819-1564G>A
ANK2 transcript variant 22	NM_001354253.2:c.1720-1564=	NM_001354253.2:c.1720-1564G>A
ANK2 transcript variant 23	NM_001354254.2:c.1819-1564=	NM_001354254.2:c.1819-1564G>A
ANK2 transcript variant 24	NM_001354255.2:c.1819-1564=	NM_001354255.2:c.1819-1564G>A
ANK2 transcript variant 25	NM_001354256.2:c.1819-1564=	NM_001354256.2:c.1819-1564G>A
ANK2 transcript variant 26	NM_001354257.2:c.1720-1564=	NM_001354257.2:c.1720-1564G>A
ANK2 transcript variant 27	NM_001354258.2:c.1882-1564=	NM_001354258.2:c.1882-1564G>A
ANK2 transcript variant 28	NM_001354260.2:c.1696-1564=	NM_001354260.2:c.1696-1564G>A
ANK2 transcript variant 29	NM_001354261.2:c.1840-1564=	NM_001354261.2:c.1840-1564G>A
ANK2 transcript variant 30	NM_001354262.2:c.1819-1564=	NM_001354262.2:c.1819-1564G>A
ANK2 transcript variant 31	NM_001354264.2:c.1795-1564=	NM_001354264.2:c.1795-1564G>A
ANK2 transcript variant 32	NM_001354265.2:c.1882-1564=	NM_001354265.2:c.1882-1564G>A
ANK2 transcript variant 33	NM_001354266.2:c.1795-1564=	NM_001354266.2:c.1795-1564G>A
ANK2 transcript variant 34	NM_001354267.2:c.1795-1564=	NM_001354267.2:c.1795-1564G>A
ANK2 transcript variant 35	NM_001354268.2:c.1783-1564=	NM_001354268.2:c.1783-1564G>A
ANK2 transcript variant 36	NM_001354269.3:c.1672-1564=	NM_001354269.3:c.1672-1564G>A
ANK2 transcript variant 37	NM_001354270.2:c.1720-1564=	NM_001354270.2:c.1720-1564G>A
ANK2 transcript variant 38	NM_001354271.2:c.1696-1564=	NM_001354271.2:c.1696-1564G>A
ANK2 transcript variant 39	NM_001354272.2:c.1819-1564=	NM_001354272.2:c.1819-1564G>A
ANK2 transcript variant 40	NM_001354273.2:c.1684-1564=	NM_001354273.2:c.1684-1564G>A
ANK2 transcript variant 41	NM_001354274.2:c.1795-1564=	NM_001354274.2:c.1795-1564G>A
ANK2 transcript variant 42	NM_001354275.2:c.1819-1564=	NM_001354275.2:c.1819-1564G>A
ANK2 transcript variant 43	NM_001354276.2:c.1795-1564=	NM_001354276.2:c.1795-1564G>A
ANK2 transcript variant 44	NM_001354277.2:c.1597-1564=	NM_001354277.2:c.1597-1564G>A
ANK2 transcript variant 50	NM_001386142.1:c.1795-1564=	NM_001386142.1:c.1795-1564G>A
ANK2 transcript variant 51	NM_001386143.1:c.1819-1564=	NM_001386143.1:c.1819-1564G>A
ANK2 transcript variant 52	NM_001386144.1:c.1927-1564=	NM_001386144.1:c.1927-1564G>A
ANK2 transcript variant 53	NM_001386146.1:c.1795-1564=	NM_001386146.1:c.1795-1564G>A
ANK2 transcript variant 54	NM_001386147.1:c.1840-1564=	NM_001386147.1:c.1840-1564G>A
ANK2 transcript variant 55	NM_001386148.2:c.1870-1564=	NM_001386148.2:c.1870-1564G>A
ANK2 transcript variant 56	NM_001386149.1:c.1795-1564=	NM_001386149.1:c.1795-1564G>A
ANK2 transcript variant 57	NM_001386150.1:c.1795-1564=	NM_001386150.1:c.1795-1564G>A
ANK2 transcript variant 58	NM_001386151.1:c.1696-1564=	NM_001386151.1:c.1696-1564G>A
ANK2 transcript variant 59	NM_001386152.1:c.1927-1564=	NM_001386152.1:c.1927-1564G>A
ANK2 transcript variant 60	NM_001386153.1:c.1795-1564=	NM_001386153.1:c.1795-1564G>A
ANK2 transcript variant 61	NM_001386154.1:c.1795-1564=	NM_001386154.1:c.1795-1564G>A
ANK2 transcript variant 62	NM_001386156.1:c.1720-1564=	NM_001386156.1:c.1720-1564G>A
ANK2 transcript variant 63	NM_001386157.1:c.1597-1564=	NM_001386157.1:c.1597-1564G>A
ANK2 transcript variant 64	NM_001386158.1:c.1498-1564=	NM_001386158.1:c.1498-1564G>A
ANK2 transcript variant 67	NM_001386160.1:c.1840-1564=	NM_001386160.1:c.1840-1564G>A
ANK2 transcript variant 68	NM_001386161.1:c.1819-1564=	NM_001386161.1:c.1819-1564G>A
ANK2 transcript variant 69	NM_001386162.1:c.1795-1564=	NM_001386162.1:c.1795-1564G>A
ANK2 transcript variant 70	NM_001386174.1:c.1933-1564=	NM_001386174.1:c.1933-1564G>A
ANK2 transcript variant 71	NM_001386175.1:c.1909-1564=	NM_001386175.1:c.1909-1564G>A
ANK2 transcript variant 72	NM_001386186.2:c.1870-1564=	NM_001386186.2:c.1870-1564G>A
ANK2 transcript variant 73	NM_001386187.2:c.1846-1564=	NM_001386187.2:c.1846-1564G>A
ANK2 transcript variant 2	NM_020977.3:c.1882-1564=	NM_020977.3:c.1882-1564G>A
ANK2 transcript variant 2	NM_020977.5:c.1882-1564=	NM_020977.5:c.1882-1564G>A
ANK2 transcript variant X1	XM_005262941.1:c.1978-1564=	XM_005262941.1:c.1978-1564G>A
ANK2 transcript variant X2	XM_005262942.1:c.1978-1564=	XM_005262942.1:c.1978-1564G>A
ANK2 transcript variant X3	XM_005262943.1:c.1978-1564=	XM_005262943.1:c.1978-1564G>A
ANK2 transcript variant X4	XM_005262944.1:c.1978-1564=	XM_005262944.1:c.1978-1564G>A
ANK2 transcript variant X4	XM_005262945.1:c.1882-1564=	XM_005262945.1:c.1882-1564G>A
ANK2 transcript variant X6	XM_005262946.1:c.1978-1564=	XM_005262946.1:c.1978-1564G>A
ANK2 transcript variant X7	XM_005262947.1:c.1978-1564=	XM_005262947.1:c.1978-1564G>A
ANK2 transcript variant X8	XM_005262948.1:c.1978-1564=	XM_005262948.1:c.1978-1564G>A
ANK2 transcript variant X9	XM_005262949.1:c.1978-1564=	XM_005262949.1:c.1978-1564G>A
ANK2 transcript variant X10	XM_005262950.1:c.1978-1564=	XM_005262950.1:c.1978-1564G>A
ANK2 transcript variant X11	XM_005262951.1:c.1954-1564=	XM_005262951.1:c.1954-1564G>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#.

15 SubSNP, 5 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ACEVAN	ss28980	May 08, 2000 (76)
2	KRIBB_YJKIM	ss80743740	Dec 14, 2007 (130)
3	1000GENOMES	ss331889006	May 09, 2011 (134)
4	1000GENOMES	ss1311356661	Aug 21, 2014 (142)
5	HUMAN_LONGEVITY	ss2266212887	Dec 20, 2016 (150)
6	GNOMAD	ss2813947575	Nov 08, 2017 (151)
7	KHV_HUMAN_GENOMES	ss3805425078	Jul 13, 2019 (153)
8	TOPMED	ss4628004085	Apr 27, 2021 (155)
9	1000G_HIGH_COVERAGE	ss5260617722	Oct 17, 2022 (156)
10	EVA	ss5351574217	Oct 17, 2022 (156)
11	HUGCELL_USP	ss5459222972	Oct 17, 2022 (156)
12	1000G_HIGH_COVERAGE	ss5542459302	Oct 17, 2022 (156)
13	SANFORD_IMAGENETICS	ss5635853116	Oct 17, 2022 (156)
14	EVA	ss5865052815	Oct 17, 2022 (156)
15	EVA	ss5964253672	Oct 17, 2022 (156)
16	1000Genomes	NC_000004.11 - 114202267	Oct 12, 2018 (152)
17	1000Genomes_30x	NC_000004.12 - 113281111	Oct 17, 2022 (156)
18	gnomAD - Genomes	NC_000004.12 - 113281111	Apr 27, 2021 (155)
19	TopMed	NC_000004.12 - 113281111	Apr 27, 2021 (155)
20	ALFA	NC_000004.12 - 113281111	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)
rs57252972	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
22813361, ss331889006, ss1311356661, ss2813947575, ss5351574217, ss5635853116, ss5964253672	NC_000004.11:114202266:G:A	NC_000004.12:113281110:G:A	(self)
29985237, 161632855, 465381641, 415668892, ss2266212887, ss3805425078, ss4628004085, ss5260617722, ss5459222972, ss5542459302, ss5865052815	NC_000004.12:113281110:G:A	NC_000004.12:113281110:G:A	(self)
ss28980, ss80743740	NT_016354.19:38749987:G:A	NC_000004.12:113281110:G:A	(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 rs29379

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
Top▲ Help
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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs29379