Name: rs34031811
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.

rs34031811

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:113349294-113349297 (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: delAT / dupAT
Variation Type: Indel Insertion and Deletion
Frequency: dupAT=0.316476 (83768/264690, TOPMED)
dupAT=0.12446 (2086/16760, 8.3KJPN)
dupAT=0.06583 (726/11028, ALFA) (+ 10 more)
dupAT=0.3262 (2089/6404, 1000G_30x)
dupAT=0.3111 (1558/5008, 1000G)
dupAT=0.1647 (738/4480, Estonian)
dupAT=0.1489 (574/3854, ALSPAC)
dupAT=0.1605 (595/3708, TWINSUK)
dupAT=0.1517 (278/1832, Korea1K)
dupAT=0.141 (141/998, GoNL)
dupAT=0.157 (94/600, NorthernSweden)
dupAT=0.075 (16/212, Vietnamese)
dupAT=0.20 (8/40, GENOME_DK)

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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	11028	ATAT=0.93417	AT=0.00000, ATATAT=0.06583	0.876859	0.008524	0.114617	14
European	Sub	9834	ATAT=0.9264	AT=0.0000, ATATAT=0.0736	0.862314	0.009559	0.128127	10
African	Sub	348	ATAT=1.000	AT=0.000, ATATAT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	8	ATAT=1.0	AT=0.0, ATATAT=0.0	1.0	0.0	0.0	N/A
African American	Sub	340	ATAT=1.000	AT=0.000, ATATAT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	86	ATAT=1.00	AT=0.00, ATATAT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	70	ATAT=1.00	AT=0.00, ATATAT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	16	ATAT=1.00	AT=0.00, ATATAT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	74	ATAT=1.00	AT=0.00, ATATAT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	386	ATAT=1.000	AT=0.000, ATATAT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	70	ATAT=1.00	AT=0.00, ATATAT=0.00	1.0	0.0	0.0	N/A
Other	Sub	230	ATAT=0.991	AT=0.000, ATATAT=0.009	0.982609	0.0	0.017391	0

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	- No frequency provided	dupAT=0.316476
8.3KJPN	JAPANESE	Study-wide	16760	- No frequency provided	dupAT=0.12446
Allele Frequency Aggregator	Total	Global	11028	ATAT=0.93417	delAT=0.00000, dupAT=0.06583
Allele Frequency Aggregator	European	Sub	9834	ATAT=0.9264	delAT=0.0000, dupAT=0.0736
Allele Frequency Aggregator	Latin American 2	Sub	386	ATAT=1.000	delAT=0.000, dupAT=0.000
Allele Frequency Aggregator	African	Sub	348	ATAT=1.000	delAT=0.000, dupAT=0.000
Allele Frequency Aggregator	Other	Sub	230	ATAT=0.991	delAT=0.000, dupAT=0.009
Allele Frequency Aggregator	Asian	Sub	86	ATAT=1.00	delAT=0.00, dupAT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	74	ATAT=1.00	delAT=0.00, dupAT=0.00
Allele Frequency Aggregator	South Asian	Sub	70	ATAT=1.00	delAT=0.00, dupAT=0.00
1000Genomes_30x	Global	Study-wide	6404	- No frequency provided	dupAT=0.3262
1000Genomes_30x	African	Sub	1786	- No frequency provided	dupAT=0.7307
1000Genomes_30x	Europe	Sub	1266	- No frequency provided	dupAT=0.1825
1000Genomes_30x	South Asian	Sub	1202	- No frequency provided	dupAT=0.1539
1000Genomes_30x	East Asian	Sub	1170	- No frequency provided	dupAT=0.1103
1000Genomes_30x	American	Sub	980	- No frequency provided	dupAT=0.244
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupAT=0.3111
1000Genomes	African	Sub	1322	- No frequency provided	dupAT=0.7277
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupAT=0.1151
1000Genomes	Europe	Sub	1006	- No frequency provided	dupAT=0.1720
1000Genomes	South Asian	Sub	978	- No frequency provided	dupAT=0.139
1000Genomes	American	Sub	694	- No frequency provided	dupAT=0.246
Genetic variation in the Estonian population	Estonian	Study-wide	4480	- No frequency provided	dupAT=0.1647
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupAT=0.1489
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupAT=0.1605
Korean Genome Project	KOREAN	Study-wide	1832	- No frequency provided	dupAT=0.1517
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	- No frequency provided	dupAT=0.141
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupAT=0.157
A Vietnamese Genetic Variation Database	Global	Study-wide	212	- No frequency provided	dupAT=0.075
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupAT=0.20

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.113349294AT[1]
GRCh38.p14 chr 4	NC_000004.12:g.113349294AT[3]
GRCh37.p13 chr 4	NC_000004.11:g.114270450AT[1]
GRCh37.p13 chr 4	NC_000004.11:g.114270450AT[3]
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.536212AT[1]
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.536212AT[3]

Gene: ANK2, ankyrin 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANK2 transcript variant 3	NM_001127493.3:c.4378-932… NM_001127493.3:c.4378-932_4378-931del	N/A	Intron Variant
ANK2 transcript variant 1	NM_001148.6:c.4405-932_44… NM_001148.6:c.4405-932_4405-931del	N/A	Intron Variant
ANK2 transcript variant 4	NM_001354225.2:c.4417-932… NM_001354225.2:c.4417-932_4417-931del	N/A	Intron Variant
ANK2 transcript variant 5	NM_001354228.2:c.4306-932… NM_001354228.2:c.4306-932_4306-931del	N/A	Intron Variant
ANK2 transcript variant 6	NM_001354230.2:c.4384-932… NM_001354230.2:c.4384-932_4384-931del	N/A	Intron Variant
ANK2 transcript variant 7	NM_001354231.2:c.4447-932… NM_001354231.2:c.4447-932_4447-931del	N/A	Intron Variant
ANK2 transcript variant 8	NM_001354232.2:c.4441-932… NM_001354232.2:c.4441-932_4441-931del	N/A	Intron Variant
ANK2 transcript variant 9	NM_001354235.2:c.4402-932… NM_001354235.2:c.4402-932_4402-931del	N/A	Intron Variant
ANK2 transcript variant 10	NM_001354236.2:c.4303-932… NM_001354236.2:c.4303-932_4303-931del	N/A	Intron Variant
ANK2 transcript variant 11	NM_001354237.2:c.4483-932… NM_001354237.2:c.4483-932_4483-931del	N/A	Intron Variant
ANK2 transcript variant 12	NM_001354239.2:c.4375-932… NM_001354239.2:c.4375-932_4375-931del	N/A	Intron Variant
ANK2 transcript variant 13	NM_001354240.2:c.4450-932… NM_001354240.2:c.4450-932_4450-931del	N/A	Intron Variant
ANK2 transcript variant 14	NM_001354241.2:c.4450-932… NM_001354241.2:c.4450-932_4450-931del	N/A	Intron Variant
ANK2 transcript variant 15	NM_001354242.2:c.4447-932… NM_001354242.2:c.4447-932_4447-931del	N/A	Intron Variant
ANK2 transcript variant 16	NM_001354243.2:c.4342-932… NM_001354243.2:c.4342-932_4342-931del	N/A	Intron Variant
ANK2 transcript variant 17	NM_001354244.2:c.4339-932… NM_001354244.2:c.4339-932_4339-931del	N/A	Intron Variant
ANK2 transcript variant 18	NM_001354245.2:c.4243-932… NM_001354245.2:c.4243-932_4243-931del	N/A	Intron Variant
ANK2 transcript variant 19	NM_001354246.2:c.4402-932… NM_001354246.2:c.4402-932_4402-931del	N/A	Intron Variant
ANK2 transcript variant 20	NM_001354249.2:c.4219-932… NM_001354249.2:c.4219-932_4219-931del	N/A	Intron Variant
ANK2 transcript variant 21	NM_001354252.2:c.4375-932… NM_001354252.2:c.4375-932_4375-931del	N/A	Intron Variant
ANK2 transcript variant 22	NM_001354253.2:c.4180-932… NM_001354253.2:c.4180-932_4180-931del	N/A	Intron Variant
ANK2 transcript variant 23	NM_001354254.2:c.4354-932… NM_001354254.2:c.4354-932_4354-931del	N/A	Intron Variant
ANK2 transcript variant 24	NM_001354255.2:c.4342-932… NM_001354255.2:c.4342-932_4342-931del	N/A	Intron Variant
ANK2 transcript variant 25	NM_001354256.2:c.4339-932… NM_001354256.2:c.4339-932_4339-931del	N/A	Intron Variant
ANK2 transcript variant 26	NM_001354257.2:c.4144-932… NM_001354257.2:c.4144-932_4144-931del	N/A	Intron Variant
ANK2 transcript variant 27	NM_001354258.2:c.4306-932… NM_001354258.2:c.4306-932_4306-931del	N/A	Intron Variant
ANK2 transcript variant 28	NM_001354260.2:c.4120-932… NM_001354260.2:c.4120-932_4120-931del	N/A	Intron Variant
ANK2 transcript variant 29	NM_001354261.2:c.4264-932… NM_001354261.2:c.4264-932_4264-931del	N/A	Intron Variant
ANK2 transcript variant 30	NM_001354262.2:c.4243-932… NM_001354262.2:c.4243-932_4243-931del	N/A	Intron Variant
ANK2 transcript variant 31	NM_001354264.2:c.4240-932… NM_001354264.2:c.4240-932_4240-931del	N/A	Intron Variant
ANK2 transcript variant 32	NM_001354265.2:c.4402-932… NM_001354265.2:c.4402-932_4402-931del	N/A	Intron Variant
ANK2 transcript variant 33	NM_001354266.2:c.4219-932… NM_001354266.2:c.4219-932_4219-931del	N/A	Intron Variant
ANK2 transcript variant 34	NM_001354267.2:c.4219-932… NM_001354267.2:c.4219-932_4219-931del	N/A	Intron Variant
ANK2 transcript variant 35	NM_001354268.2:c.4207-932… NM_001354268.2:c.4207-932_4207-931del	N/A	Intron Variant
ANK2 transcript variant 36	NM_001354269.3:c.4192-932… NM_001354269.3:c.4192-932_4192-931del	N/A	Intron Variant
ANK2 transcript variant 37	NM_001354270.2:c.4180-932… NM_001354270.2:c.4180-932_4180-931del	N/A	Intron Variant
ANK2 transcript variant 38	NM_001354271.2:c.4120-932… NM_001354271.2:c.4120-932_4120-931del	N/A	Intron Variant
ANK2 transcript variant 39	NM_001354272.2:c.4276-932… NM_001354272.2:c.4276-932_4276-931del	N/A	Intron Variant
ANK2 transcript variant 40	NM_001354273.2:c.4105-932… NM_001354273.2:c.4105-932_4105-931del	N/A	Intron Variant
ANK2 transcript variant 41	NM_001354274.2:c.4171-932… NM_001354274.2:c.4171-932_4171-931del	N/A	Intron Variant
ANK2 transcript variant 42	NM_001354275.2:c.4243-932… NM_001354275.2:c.4243-932_4243-931del	N/A	Intron Variant
ANK2 transcript variant 43	NM_001354276.2:c.4219-932… NM_001354276.2:c.4219-932_4219-931del	N/A	Intron Variant
ANK2 transcript variant 44	NM_001354277.2:c.4021-932… NM_001354277.2:c.4021-932_4021-931del	N/A	Intron Variant
ANK2 transcript variant 45	NM_001354278.2:c.1933-932… NM_001354278.2:c.1933-932_1933-931del	N/A	Intron Variant
ANK2 transcript variant 46	NM_001354279.2:c.1969-932… NM_001354279.2:c.1969-932_1969-931del	N/A	Intron Variant
ANK2 transcript variant 47	NM_001354280.2:c.1954-932… NM_001354280.2:c.1954-932_1954-931del	N/A	Intron Variant
ANK2 transcript variant 48	NM_001354281.2:c.1933-932… NM_001354281.2:c.1933-932_1933-931del	N/A	Intron Variant
ANK2 transcript variant 49	NM_001354282.2:c.1969-932… NM_001354282.2:c.1969-932_1969-931del	N/A	Intron Variant
ANK2 transcript variant 50	NM_001386142.1:c.4171-932… NM_001386142.1:c.4171-932_4171-931del	N/A	Intron Variant
ANK2 transcript variant 51	NM_001386143.1:c.4342-932… NM_001386143.1:c.4342-932_4342-931del	N/A	Intron Variant
ANK2 transcript variant 52	NM_001386144.1:c.4450-932… NM_001386144.1:c.4450-932_4450-931del	N/A	Intron Variant
ANK2 transcript variant 53	NM_001386146.1:c.4186-932… NM_001386146.1:c.4186-932_4186-931del	N/A	Intron Variant
ANK2 transcript variant 54	NM_001386147.1:c.4231-932… NM_001386147.1:c.4231-932_4231-931del	N/A	Intron Variant
ANK2 transcript variant 55	NM_001386148.2:c.4390-932… NM_001386148.2:c.4390-932_4390-931del	N/A	Intron Variant
ANK2 transcript variant 56	NM_001386149.1:c.4186-932… NM_001386149.1:c.4186-932_4186-931del	N/A	Intron Variant
ANK2 transcript variant 57	NM_001386150.1:c.4186-932… NM_001386150.1:c.4186-932_4186-931del	N/A	Intron Variant
ANK2 transcript variant 58	NM_001386151.1:c.4120-932… NM_001386151.1:c.4120-932_4120-931del	N/A	Intron Variant
ANK2 transcript variant 59	NM_001386152.1:c.4462-932… NM_001386152.1:c.4462-932_4462-931del	N/A	Intron Variant
ANK2 transcript variant 60	NM_001386153.1:c.4186-932… NM_001386153.1:c.4186-932_4186-931del	N/A	Intron Variant
ANK2 transcript variant 61	NM_001386154.1:c.4171-932… NM_001386154.1:c.4171-932_4171-931del	N/A	Intron Variant
ANK2 transcript variant 62	NM_001386156.1:c.4144-932… NM_001386156.1:c.4144-932_4144-931del	N/A	Intron Variant
ANK2 transcript variant 63	NM_001386157.1:c.4021-932… NM_001386157.1:c.4021-932_4021-931del	N/A	Intron Variant
ANK2 transcript variant 64	NM_001386158.1:c.3922-932… NM_001386158.1:c.3922-932_3922-931del	N/A	Intron Variant
ANK2 transcript variant 67	NM_001386160.1:c.4249-932… NM_001386160.1:c.4249-932_4249-931del	N/A	Intron Variant
ANK2 transcript variant 68	NM_001386161.1:c.4339-932… NM_001386161.1:c.4339-932_4339-931del	N/A	Intron Variant
ANK2 transcript variant 69	NM_001386162.1:c.4219-932… NM_001386162.1:c.4219-932_4219-931del	N/A	Intron Variant
ANK2 transcript variant 65	NM_001386166.1:c.805-932_… NM_001386166.1:c.805-932_805-931del	N/A	Intron Variant
ANK2 transcript variant 66	NM_001386167.1:c.805-932_… NM_001386167.1:c.805-932_805-931del	N/A	Intron Variant
ANK2 transcript variant 70	NM_001386174.1:c.4546-932… NM_001386174.1:c.4546-932_4546-931del	N/A	Intron Variant
ANK2 transcript variant 71	NM_001386175.1:c.4522-932… NM_001386175.1:c.4522-932_4522-931del	N/A	Intron Variant
ANK2 transcript variant 72	NM_001386186.2:c.4390-932… NM_001386186.2:c.4390-932_4390-931del	N/A	Intron Variant
ANK2 transcript variant 73	NM_001386187.2:c.4270-932… NM_001386187.2:c.4270-932_4270-931del	N/A	Intron Variant
ANK2 transcript variant 2	NM_020977.5:c.4405-932_44… NM_020977.5:c.4405-932_4405-931del	N/A	Intron 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	ATAT=	delAT	dupAT
GRCh38.p14 chr 4	NC_000004.12:g.113349294_113349297=	NC_000004.12:g.113349294AT[1]	NC_000004.12:g.113349294AT[3]
GRCh37.p13 chr 4	NC_000004.11:g.114270450_114270453=	NC_000004.11:g.114270450AT[1]	NC_000004.11:g.114270450AT[3]
ANK2 RefSeqGene (LRG_327)	NG_009006.2:g.536212_536215=	NG_009006.2:g.536212AT[1]	NG_009006.2:g.536212AT[3]
ANK2 transcript variant 3	NM_001127493.1:c.4378-934=	NM_001127493.1:c.4378-932_4378-931del	NM_001127493.1:c.4378-934AT[3]
ANK2 transcript variant 3	NM_001127493.3:c.4378-934=	NM_001127493.3:c.4378-932_4378-931del	NM_001127493.3:c.4378-934AT[3]
ANK2 transcript variant 1	NM_001148.4:c.4405-934=	NM_001148.4:c.4405-932_4405-931del	NM_001148.4:c.4405-934AT[3]
ANK2 transcript variant 1	NM_001148.6:c.4405-934=	NM_001148.6:c.4405-932_4405-931del	NM_001148.6:c.4405-934AT[3]
ANK2 transcript variant 4	NM_001354225.2:c.4417-934=	NM_001354225.2:c.4417-932_4417-931del	NM_001354225.2:c.4417-934AT[3]
ANK2 transcript variant 5	NM_001354228.2:c.4306-934=	NM_001354228.2:c.4306-932_4306-931del	NM_001354228.2:c.4306-934AT[3]
ANK2 transcript variant 6	NM_001354230.2:c.4384-934=	NM_001354230.2:c.4384-932_4384-931del	NM_001354230.2:c.4384-934AT[3]
ANK2 transcript variant 7	NM_001354231.2:c.4447-934=	NM_001354231.2:c.4447-932_4447-931del	NM_001354231.2:c.4447-934AT[3]
ANK2 transcript variant 8	NM_001354232.2:c.4441-934=	NM_001354232.2:c.4441-932_4441-931del	NM_001354232.2:c.4441-934AT[3]
ANK2 transcript variant 9	NM_001354235.2:c.4402-934=	NM_001354235.2:c.4402-932_4402-931del	NM_001354235.2:c.4402-934AT[3]
ANK2 transcript variant 10	NM_001354236.2:c.4303-934=	NM_001354236.2:c.4303-932_4303-931del	NM_001354236.2:c.4303-934AT[3]
ANK2 transcript variant 11	NM_001354237.2:c.4483-934=	NM_001354237.2:c.4483-932_4483-931del	NM_001354237.2:c.4483-934AT[3]
ANK2 transcript variant 12	NM_001354239.2:c.4375-934=	NM_001354239.2:c.4375-932_4375-931del	NM_001354239.2:c.4375-934AT[3]
ANK2 transcript variant 13	NM_001354240.2:c.4450-934=	NM_001354240.2:c.4450-932_4450-931del	NM_001354240.2:c.4450-934AT[3]
ANK2 transcript variant 14	NM_001354241.2:c.4450-934=	NM_001354241.2:c.4450-932_4450-931del	NM_001354241.2:c.4450-934AT[3]
ANK2 transcript variant 15	NM_001354242.2:c.4447-934=	NM_001354242.2:c.4447-932_4447-931del	NM_001354242.2:c.4447-934AT[3]
ANK2 transcript variant 16	NM_001354243.2:c.4342-934=	NM_001354243.2:c.4342-932_4342-931del	NM_001354243.2:c.4342-934AT[3]
ANK2 transcript variant 17	NM_001354244.2:c.4339-934=	NM_001354244.2:c.4339-932_4339-931del	NM_001354244.2:c.4339-934AT[3]
ANK2 transcript variant 18	NM_001354245.2:c.4243-934=	NM_001354245.2:c.4243-932_4243-931del	NM_001354245.2:c.4243-934AT[3]
ANK2 transcript variant 19	NM_001354246.2:c.4402-934=	NM_001354246.2:c.4402-932_4402-931del	NM_001354246.2:c.4402-934AT[3]
ANK2 transcript variant 20	NM_001354249.2:c.4219-934=	NM_001354249.2:c.4219-932_4219-931del	NM_001354249.2:c.4219-934AT[3]
ANK2 transcript variant 21	NM_001354252.2:c.4375-934=	NM_001354252.2:c.4375-932_4375-931del	NM_001354252.2:c.4375-934AT[3]
ANK2 transcript variant 22	NM_001354253.2:c.4180-934=	NM_001354253.2:c.4180-932_4180-931del	NM_001354253.2:c.4180-934AT[3]
ANK2 transcript variant 23	NM_001354254.2:c.4354-934=	NM_001354254.2:c.4354-932_4354-931del	NM_001354254.2:c.4354-934AT[3]
ANK2 transcript variant 24	NM_001354255.2:c.4342-934=	NM_001354255.2:c.4342-932_4342-931del	NM_001354255.2:c.4342-934AT[3]
ANK2 transcript variant 25	NM_001354256.2:c.4339-934=	NM_001354256.2:c.4339-932_4339-931del	NM_001354256.2:c.4339-934AT[3]
ANK2 transcript variant 26	NM_001354257.2:c.4144-934=	NM_001354257.2:c.4144-932_4144-931del	NM_001354257.2:c.4144-934AT[3]
ANK2 transcript variant 27	NM_001354258.2:c.4306-934=	NM_001354258.2:c.4306-932_4306-931del	NM_001354258.2:c.4306-934AT[3]
ANK2 transcript variant 28	NM_001354260.2:c.4120-934=	NM_001354260.2:c.4120-932_4120-931del	NM_001354260.2:c.4120-934AT[3]
ANK2 transcript variant 29	NM_001354261.2:c.4264-934=	NM_001354261.2:c.4264-932_4264-931del	NM_001354261.2:c.4264-934AT[3]
ANK2 transcript variant 30	NM_001354262.2:c.4243-934=	NM_001354262.2:c.4243-932_4243-931del	NM_001354262.2:c.4243-934AT[3]
ANK2 transcript variant 31	NM_001354264.2:c.4240-934=	NM_001354264.2:c.4240-932_4240-931del	NM_001354264.2:c.4240-934AT[3]
ANK2 transcript variant 32	NM_001354265.2:c.4402-934=	NM_001354265.2:c.4402-932_4402-931del	NM_001354265.2:c.4402-934AT[3]
ANK2 transcript variant 33	NM_001354266.2:c.4219-934=	NM_001354266.2:c.4219-932_4219-931del	NM_001354266.2:c.4219-934AT[3]
ANK2 transcript variant 34	NM_001354267.2:c.4219-934=	NM_001354267.2:c.4219-932_4219-931del	NM_001354267.2:c.4219-934AT[3]
ANK2 transcript variant 35	NM_001354268.2:c.4207-934=	NM_001354268.2:c.4207-932_4207-931del	NM_001354268.2:c.4207-934AT[3]
ANK2 transcript variant 36	NM_001354269.3:c.4192-934=	NM_001354269.3:c.4192-932_4192-931del	NM_001354269.3:c.4192-934AT[3]
ANK2 transcript variant 37	NM_001354270.2:c.4180-934=	NM_001354270.2:c.4180-932_4180-931del	NM_001354270.2:c.4180-934AT[3]
ANK2 transcript variant 38	NM_001354271.2:c.4120-934=	NM_001354271.2:c.4120-932_4120-931del	NM_001354271.2:c.4120-934AT[3]
ANK2 transcript variant 39	NM_001354272.2:c.4276-934=	NM_001354272.2:c.4276-932_4276-931del	NM_001354272.2:c.4276-934AT[3]
ANK2 transcript variant 40	NM_001354273.2:c.4105-934=	NM_001354273.2:c.4105-932_4105-931del	NM_001354273.2:c.4105-934AT[3]
ANK2 transcript variant 41	NM_001354274.2:c.4171-934=	NM_001354274.2:c.4171-932_4171-931del	NM_001354274.2:c.4171-934AT[3]
ANK2 transcript variant 42	NM_001354275.2:c.4243-934=	NM_001354275.2:c.4243-932_4243-931del	NM_001354275.2:c.4243-934AT[3]
ANK2 transcript variant 43	NM_001354276.2:c.4219-934=	NM_001354276.2:c.4219-932_4219-931del	NM_001354276.2:c.4219-934AT[3]
ANK2 transcript variant 44	NM_001354277.2:c.4021-934=	NM_001354277.2:c.4021-932_4021-931del	NM_001354277.2:c.4021-934AT[3]
ANK2 transcript variant 45	NM_001354278.2:c.1933-934=	NM_001354278.2:c.1933-932_1933-931del	NM_001354278.2:c.1933-934AT[3]
ANK2 transcript variant 46	NM_001354279.2:c.1969-934=	NM_001354279.2:c.1969-932_1969-931del	NM_001354279.2:c.1969-934AT[3]
ANK2 transcript variant 47	NM_001354280.2:c.1954-934=	NM_001354280.2:c.1954-932_1954-931del	NM_001354280.2:c.1954-934AT[3]
ANK2 transcript variant 48	NM_001354281.2:c.1933-934=	NM_001354281.2:c.1933-932_1933-931del	NM_001354281.2:c.1933-934AT[3]
ANK2 transcript variant 49	NM_001354282.2:c.1969-934=	NM_001354282.2:c.1969-932_1969-931del	NM_001354282.2:c.1969-934AT[3]
ANK2 transcript variant 50	NM_001386142.1:c.4171-934=	NM_001386142.1:c.4171-932_4171-931del	NM_001386142.1:c.4171-934AT[3]
ANK2 transcript variant 51	NM_001386143.1:c.4342-934=	NM_001386143.1:c.4342-932_4342-931del	NM_001386143.1:c.4342-934AT[3]
ANK2 transcript variant 52	NM_001386144.1:c.4450-934=	NM_001386144.1:c.4450-932_4450-931del	NM_001386144.1:c.4450-934AT[3]
ANK2 transcript variant 53	NM_001386146.1:c.4186-934=	NM_001386146.1:c.4186-932_4186-931del	NM_001386146.1:c.4186-934AT[3]
ANK2 transcript variant 54	NM_001386147.1:c.4231-934=	NM_001386147.1:c.4231-932_4231-931del	NM_001386147.1:c.4231-934AT[3]
ANK2 transcript variant 55	NM_001386148.2:c.4390-934=	NM_001386148.2:c.4390-932_4390-931del	NM_001386148.2:c.4390-934AT[3]
ANK2 transcript variant 56	NM_001386149.1:c.4186-934=	NM_001386149.1:c.4186-932_4186-931del	NM_001386149.1:c.4186-934AT[3]
ANK2 transcript variant 57	NM_001386150.1:c.4186-934=	NM_001386150.1:c.4186-932_4186-931del	NM_001386150.1:c.4186-934AT[3]
ANK2 transcript variant 58	NM_001386151.1:c.4120-934=	NM_001386151.1:c.4120-932_4120-931del	NM_001386151.1:c.4120-934AT[3]
ANK2 transcript variant 59	NM_001386152.1:c.4462-934=	NM_001386152.1:c.4462-932_4462-931del	NM_001386152.1:c.4462-934AT[3]
ANK2 transcript variant 60	NM_001386153.1:c.4186-934=	NM_001386153.1:c.4186-932_4186-931del	NM_001386153.1:c.4186-934AT[3]
ANK2 transcript variant 61	NM_001386154.1:c.4171-934=	NM_001386154.1:c.4171-932_4171-931del	NM_001386154.1:c.4171-934AT[3]
ANK2 transcript variant 62	NM_001386156.1:c.4144-934=	NM_001386156.1:c.4144-932_4144-931del	NM_001386156.1:c.4144-934AT[3]
ANK2 transcript variant 63	NM_001386157.1:c.4021-934=	NM_001386157.1:c.4021-932_4021-931del	NM_001386157.1:c.4021-934AT[3]
ANK2 transcript variant 64	NM_001386158.1:c.3922-934=	NM_001386158.1:c.3922-932_3922-931del	NM_001386158.1:c.3922-934AT[3]
ANK2 transcript variant 67	NM_001386160.1:c.4249-934=	NM_001386160.1:c.4249-932_4249-931del	NM_001386160.1:c.4249-934AT[3]
ANK2 transcript variant 68	NM_001386161.1:c.4339-934=	NM_001386161.1:c.4339-932_4339-931del	NM_001386161.1:c.4339-934AT[3]
ANK2 transcript variant 69	NM_001386162.1:c.4219-934=	NM_001386162.1:c.4219-932_4219-931del	NM_001386162.1:c.4219-934AT[3]
ANK2 transcript variant 65	NM_001386166.1:c.805-934=	NM_001386166.1:c.805-932_805-931del	NM_001386166.1:c.805-934AT[3]
ANK2 transcript variant 66	NM_001386167.1:c.805-934=	NM_001386167.1:c.805-932_805-931del	NM_001386167.1:c.805-934AT[3]
ANK2 transcript variant 70	NM_001386174.1:c.4546-934=	NM_001386174.1:c.4546-932_4546-931del	NM_001386174.1:c.4546-934AT[3]
ANK2 transcript variant 71	NM_001386175.1:c.4522-934=	NM_001386175.1:c.4522-932_4522-931del	NM_001386175.1:c.4522-934AT[3]
ANK2 transcript variant 72	NM_001386186.2:c.4390-934=	NM_001386186.2:c.4390-932_4390-931del	NM_001386186.2:c.4390-934AT[3]
ANK2 transcript variant 73	NM_001386187.2:c.4270-934=	NM_001386187.2:c.4270-932_4270-931del	NM_001386187.2:c.4270-934AT[3]
ANK2 transcript variant 2	NM_020977.3:c.4405-934=	NM_020977.3:c.4405-932_4405-931del	NM_020977.3:c.4405-934AT[3]
ANK2 transcript variant 2	NM_020977.5:c.4405-934=	NM_020977.5:c.4405-932_4405-931del	NM_020977.5:c.4405-934AT[3]
ANK2 transcript variant X1	XM_005262941.1:c.4501-934=	XM_005262941.1:c.4501-932_4501-931del	XM_005262941.1:c.4501-934AT[3]
ANK2 transcript variant X2	XM_005262942.1:c.4438-934=	XM_005262942.1:c.4438-932_4438-931del	XM_005262942.1:c.4438-934AT[3]
ANK2 transcript variant X3	XM_005262943.1:c.4402-934=	XM_005262943.1:c.4402-932_4402-931del	XM_005262943.1:c.4402-934AT[3]
ANK2 transcript variant X4	XM_005262944.1:c.4387-934=	XM_005262944.1:c.4387-932_4387-931del	XM_005262944.1:c.4387-934AT[3]
ANK2 transcript variant X4	XM_005262945.1:c.4306-934=	XM_005262945.1:c.4306-932_4306-931del	XM_005262945.1:c.4306-934AT[3]
ANK2 transcript variant X6	XM_005262946.1:c.4405-934=	XM_005262946.1:c.4405-932_4405-931del	XM_005262946.1:c.4405-934AT[3]
ANK2 transcript variant X7	XM_005262947.1:c.4438-934=	XM_005262947.1:c.4438-932_4438-931del	XM_005262947.1:c.4438-934AT[3]
ANK2 transcript variant X8	XM_005262948.1:c.4402-934=	XM_005262948.1:c.4402-932_4402-931del	XM_005262948.1:c.4402-934AT[3]
ANK2 transcript variant X9	XM_005262949.1:c.4369-934=	XM_005262949.1:c.4369-932_4369-931del	XM_005262949.1:c.4369-934AT[3]
ANK2 transcript variant X10	XM_005262950.1:c.4438-934=	XM_005262950.1:c.4438-932_4438-931del	XM_005262950.1:c.4438-934AT[3]
ANK2 transcript variant X11	XM_005262951.1:c.4378-934=	XM_005262951.1:c.4378-932_4378-931del	XM_005262951.1:c.4378-934AT[3]

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#.

56 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42206493	Mar 14, 2006 (126)
2	HGSV	ss80404211	Dec 03, 2013 (138)
3	HGSV	ss80479924	Dec 04, 2013 (138)
4	HGSV	ss83321399	Dec 05, 2013 (138)
5	HUMANGENOME_JCVI	ss95365951	Feb 06, 2009 (130)
6	HUMANGENOME_JCVI	ss98915868	Feb 13, 2009 (138)
7	GMI	ss287755111	May 09, 2011 (138)
8	GMI	ss288571732	May 04, 2012 (137)
9	1000GENOMES	ss326562323	May 09, 2011 (138)
10	1000GENOMES	ss326595989	May 09, 2011 (138)
11	1000GENOMES	ss326775072	May 09, 2011 (138)
12	1000GENOMES	ss498829785	May 04, 2012 (138)
13	LUNTER	ss551403291	Apr 25, 2013 (138)
14	LUNTER	ss551532796	Apr 25, 2013 (138)
15	LUNTER	ss553158056	Apr 25, 2013 (138)
16	SSMP	ss663447241	Apr 01, 2015 (144)
17	EVA-GONL	ss980552987	Aug 21, 2014 (142)
18	1000GENOMES	ss1372653146	Aug 21, 2014 (142)
19	DDI	ss1536423645	Apr 01, 2015 (144)
20	EVA_GENOME_DK	ss1576317219	Apr 01, 2015 (144)
21	EVA_DECODE	ss1590058400	Jan 10, 2018 (151)
22	EVA_DECODE	ss1590058401	Apr 01, 2015 (144)
23	EVA_UK10K_ALSPAC	ss1704314341	Apr 01, 2015 (144)
24	EVA_UK10K_TWINSUK	ss1704314491	Apr 01, 2015 (144)
25	HAMMER_LAB	ss1802036181	Sep 08, 2015 (146)
26	GENOMED	ss1969839022	Jul 19, 2016 (147)
27	JJLAB	ss2030623489	Sep 14, 2016 (149)
28	GNOMAD	ss2813952439	Nov 08, 2017 (151)
29	SWEGEN	ss2995366054	Nov 08, 2017 (151)
30	MCHAISSO	ss3065969795	Nov 08, 2017 (151)
31	BIOINF_KMB_FNS_UNIBA	ss3645819474	Oct 12, 2018 (152)
32	URBANLAB	ss3647821085	Oct 12, 2018 (152)
33	EGCUT_WGS	ss3663267259	Jul 13, 2019 (153)
34	EVA_DECODE	ss3712841769	Jul 13, 2019 (153)
35	EVA_DECODE	ss3712841770	Jul 13, 2019 (153)
36	ACPOP	ss3731505769	Jul 13, 2019 (153)
37	PACBIO	ss3784827126	Jul 13, 2019 (153)
38	PACBIO	ss3790267703	Jul 13, 2019 (153)
39	PACBIO	ss3795143086	Jul 13, 2019 (153)
40	KHV_HUMAN_GENOMES	ss3805425550	Jul 13, 2019 (153)
41	EVA	ss3828749033	Apr 26, 2020 (154)
42	KOGIC	ss3954913618	Apr 26, 2020 (154)
43	GNOMAD	ss4118420607	Apr 27, 2021 (155)
44	TOPMED	ss4628019392	Apr 27, 2021 (155)
45	TOMMO_GENOMICS	ss5167497513	Apr 27, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5260619188	Oct 17, 2022 (156)
47	HUGCELL_USP	ss5459224301	Oct 17, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5542461556	Oct 17, 2022 (156)
49	SANFORD_IMAGENETICS	ss5635853936	Oct 17, 2022 (156)
50	TOMMO_GENOMICS	ss5702348663	Oct 17, 2022 (156)
51	TOMMO_GENOMICS	ss5702348664	Oct 17, 2022 (156)
52	YY_MCH	ss5805433724	Oct 17, 2022 (156)
53	EVA	ss5844552324	Oct 17, 2022 (156)
54	EVA	ss5854394306	Oct 17, 2022 (156)
55	EVA	ss5865054578	Oct 17, 2022 (156)
56	EVA	ss5964254586	Oct 17, 2022 (156)
57	1000Genomes	NC_000004.11 - 114270450	Oct 12, 2018 (152)
58	1000Genomes_30x	NC_000004.12 - 113349294	Oct 17, 2022 (156)
59	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 114270450	Oct 12, 2018 (152)
60	Genetic variation in the Estonian population	NC_000004.11 - 114270450	Oct 12, 2018 (152)
61	The Danish reference pan genome	NC_000004.11 - 114270450	Apr 26, 2020 (154)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 161645216 (NC_000004.12:113349293::AT 42487/139900) Row 161645217 (NC_000004.12:113349293:AT: 4/139966)	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 161645216 (NC_000004.12:113349293::AT 42487/139900) Row 161645217 (NC_000004.12:113349293:AT: 4/139966)	-	Apr 27, 2021 (155)
64	Genome of the Netherlands Release 5	NC_000004.11 - 114270450	Apr 26, 2020 (154)
65	Korean Genome Project	NC_000004.12 - 113349294	Apr 26, 2020 (154)
66	Northern Sweden	NC_000004.11 - 114270450	Jul 13, 2019 (153)
67	8.3KJPN	NC_000004.11 - 114270450	Apr 27, 2021 (155)
68	14KJPN Submission ignored due to conflicting rows: Row 36185767 (NC_000004.12:113349293::AT 3545/28258) Row 36185768 (NC_000004.12:113349293:AT: 1/28258)	-	Oct 17, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 36185767 (NC_000004.12:113349293::AT 3545/28258) Row 36185768 (NC_000004.12:113349293:AT: 1/28258)	-	Oct 17, 2022 (156)
70	TopMed	NC_000004.12 - 113349294	Apr 27, 2021 (155)
71	UK 10K study - Twins	NC_000004.11 - 114270450	Oct 12, 2018 (152)
72	A Vietnamese Genetic Variation Database	NC_000004.11 - 114270450	Jul 13, 2019 (153)
73	ALFA	NC_000004.12 - 113349294	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)
rs34791298	May 23, 2006 (127)
rs386401185	Aug 21, 2014 (142)
rs797009647	Nov 08, 2017 (151)
rs71582167	May 15, 2013 (138)
rs142084935	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss1590058400	NC_000004.10:114489898:AT:	NC_000004.12:113349293:ATAT:AT	(self)
ss3712841770, ss4118420607, ss5702348664	NC_000004.12:113349293:AT:	NC_000004.12:113349293:ATAT:AT	(self)
7497777220	NC_000004.12:113349293:ATAT:AT	NC_000004.12:113349293:ATAT:AT	(self)
ss326562323, ss326595989, ss326775072, ss551403291, ss551532796, ss553158056, ss1590058401	NC_000004.10:114489898::AT	NC_000004.12:113349293:ATAT:ATATAT	(self)
ss288571732	NC_000004.10:114489902::AT	NC_000004.12:113349293:ATAT:ATATAT	(self)
22815155, 12695286, 9005507, 936036, 5614012, 4790634, 25466820, 12695286, 2790837, ss498829785, ss663447241, ss980552987, ss1372653146, ss1536423645, ss1576317219, ss1704314341, ss1704314491, ss1802036181, ss1969839022, ss2030623489, ss2813952439, ss2995366054, ss3663267259, ss3731505769, ss3784827126, ss3790267703, ss3795143086, ss3828749033, ss5167497513, ss5635853936, ss5844552324, ss5964254586	NC_000004.11:114270449::AT	NC_000004.12:113349293:ATAT:ATATAT	(self)
29987491, 11291619, 465396948, ss3065969795, ss3645819474, ss3647821085, ss3805425550, ss3954913618, ss4628019392, ss5260619188, ss5459224301, ss5542461556, ss5702348663, ss5805433724, ss5854394306, ss5865054578	NC_000004.12:113349293::AT	NC_000004.12:113349293:ATAT:ATATAT	(self)
7497777220	NC_000004.12:113349293:ATAT:ATATAT	NC_000004.12:113349293:ATAT:ATATAT	(self)
ss3712841769	NC_000004.12:113349295::AT	NC_000004.12:113349293:ATAT:ATATAT	(self)
ss98915868, ss287755111	NT_016354.19:38818170::AT	NC_000004.12:113349293:ATAT:ATATAT	(self)
ss42206493	NT_016354.19:38818171::TA	NC_000004.12:113349293:ATAT:ATATAT	(self)
ss80404211, ss80479924, ss83321399, ss95365951	NT_016354.19:38818174::AT	NC_000004.12:113349293:ATAT:ATATAT	(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 rs34031811

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

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs34031811