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dbSNP Short Genetic Variations

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.

rs786205571

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr4:113356462 (GRCh38.p12) 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
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
ANK2 : Missense Variant
Publications
1 citation
Genomic View
See rs on genome
Help

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.p12 chr 4 NC_000004.12:g.113356462C>A
GRCh37.p13 chr 4 NC_000004.11:g.114277618C>A
ANK2 RefSeqGene (LRG_327) NG_009006.2:g.543380C>A
Gene: ANK2, ankyrin 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ANK2 transcript variant 3 NM_001127493.2:c. N/A Intron Variant
ANK2 transcript variant 4 NM_001354225.1:c. N/A Intron Variant
ANK2 transcript variant 5 NM_001354228.1:c. N/A Intron Variant
ANK2 transcript variant 6 NM_001354230.1:c. N/A Intron Variant
ANK2 transcript variant 7 NM_001354231.1:c. N/A Intron Variant
ANK2 transcript variant 8 NM_001354232.1:c. N/A Intron Variant
ANK2 transcript variant 9 NM_001354235.1:c. N/A Intron Variant
ANK2 transcript variant 10 NM_001354236.1:c. N/A Intron Variant
ANK2 transcript variant 11 NM_001354237.1:c. N/A Intron Variant
ANK2 transcript variant 12 NM_001354239.1:c. N/A Intron Variant
ANK2 transcript variant 13 NM_001354240.1:c. N/A Intron Variant
ANK2 transcript variant 14 NM_001354241.1:c. N/A Intron Variant
ANK2 transcript variant 15 NM_001354242.1:c. N/A Intron Variant
ANK2 transcript variant 16 NM_001354243.1:c. N/A Intron Variant
ANK2 transcript variant 17 NM_001354244.1:c. N/A Intron Variant
ANK2 transcript variant 18 NM_001354245.1:c. N/A Intron Variant
ANK2 transcript variant 19 NM_001354246.1:c. N/A Intron Variant
ANK2 transcript variant 20 NM_001354249.1:c. N/A Intron Variant
ANK2 transcript variant 21 NM_001354252.1:c. N/A Intron Variant
ANK2 transcript variant 22 NM_001354253.1:c. N/A Intron Variant
ANK2 transcript variant 23 NM_001354254.1:c. N/A Intron Variant
ANK2 transcript variant 24 NM_001354255.1:c. N/A Intron Variant
ANK2 transcript variant 25 NM_001354256.1:c. N/A Intron Variant
ANK2 transcript variant 26 NM_001354257.1:c. N/A Intron Variant
ANK2 transcript variant 27 NM_001354258.1:c. N/A Intron Variant
ANK2 transcript variant 28 NM_001354260.1:c. N/A Intron Variant
ANK2 transcript variant 29 NM_001354261.1:c. N/A Intron Variant
ANK2 transcript variant 30 NM_001354262.1:c. N/A Intron Variant
ANK2 transcript variant 31 NM_001354264.1:c. N/A Intron Variant
ANK2 transcript variant 32 NM_001354265.1:c. N/A Intron Variant
ANK2 transcript variant 33 NM_001354266.1:c. N/A Intron Variant
ANK2 transcript variant 34 NM_001354267.1:c. N/A Intron Variant
ANK2 transcript variant 35 NM_001354268.1:c. N/A Intron Variant
ANK2 transcript variant 36 NM_001354269.1:c. N/A Intron Variant
ANK2 transcript variant 37 NM_001354270.1:c. N/A Intron Variant
ANK2 transcript variant 38 NM_001354271.1:c. N/A Intron Variant
ANK2 transcript variant 39 NM_001354272.1:c. N/A Intron Variant
ANK2 transcript variant 40 NM_001354273.1:c. N/A Intron Variant
ANK2 transcript variant 41 NM_001354274.1:c. N/A Intron Variant
ANK2 transcript variant 42 NM_001354275.1:c. N/A Intron Variant
ANK2 transcript variant 43 NM_001354276.1:c. N/A Intron Variant
ANK2 transcript variant 44 NM_001354277.1:c. N/A Intron Variant
ANK2 transcript variant 45 NM_001354278.1:c. N/A Intron Variant
ANK2 transcript variant 46 NM_001354279.1:c. N/A Intron Variant
ANK2 transcript variant 47 NM_001354280.1:c. N/A Intron Variant
ANK2 transcript variant 48 NM_001354281.1:c. N/A Intron Variant
ANK2 transcript variant 49 NM_001354282.1:c. N/A Intron Variant
ANK2 transcript variant 2 NM_020977.4:c. N/A Intron Variant
ANK2 transcript variant 1 NM_001148.5:c.7844C>A P [CCC] > H [CAC] Coding Sequence Variant
ankyrin-2 isoform 1 NP_001139.3:p.Pro2615His P (Pro) > H (His) Missense Variant
ANK2 transcript variant X13 XM_017008078.2:c. N/A Intron Variant
ANK2 transcript variant X18 XM_017008080.2:c. N/A Intron Variant
ANK2 transcript variant X12 XM_024454017.1:c. N/A Intron Variant
ANK2 transcript variant X14 XM_024454018.1:c. N/A Intron Variant
ANK2 transcript variant X15 XM_024454019.1:c. N/A Intron Variant
ANK2 transcript variant X16 XM_024454020.1:c. N/A Intron Variant
ANK2 transcript variant X17 XM_024454021.1:c. N/A Intron Variant
ANK2 transcript variant X19 XM_024454022.1:c. N/A Intron Variant
ANK2 transcript variant X20 XM_024454023.1:c. N/A Intron Variant
ANK2 transcript variant X1 XM_017008067.1:c.7985C>A P [CCC] > H [CAC] Coding Sequence Variant
ankyrin-2 isoform X1 XP_016863556.1:p.Pro266...

XP_016863556.1:p.Pro2662His

P (Pro) > H (His) Missense Variant
ANK2 transcript variant X2 XM_017008069.1:c.7961C>A P [CCC] > H [CAC] Coding Sequence Variant
ankyrin-2 isoform X2 XP_016863558.1:p.Pro265...

XP_016863558.1:p.Pro2654His

P (Pro) > H (His) Missense Variant
ANK2 transcript variant X3 XM_024454016.1:c.7880C>A P [CCC] > H [CAC] Coding Sequence Variant
ankyrin-2 isoform X3 XP_024309784.1:p.Pro262...

XP_024309784.1:p.Pro2627His

P (Pro) > H (His) Missense Variant
ANK2 transcript variant X4 XM_017008071.2:c.7871C>A P [CCC] > H [CAC] Coding Sequence Variant
ankyrin-2 isoform X4 XP_016863560.1:p.Pro262...

XP_016863560.1:p.Pro2624His

P (Pro) > H (His) Missense Variant
ANK2 transcript variant X5 XM_017008072.2:c.7847C>A P [CCC] > H [CAC] Coding Sequence Variant
ankyrin-2 isoform X5 XP_016863561.1:p.Pro261...

XP_016863561.1:p.Pro2616His

P (Pro) > H (His) Missense Variant
ANK2 transcript variant X6 XM_017008073.2:c.7844C>A P [CCC] > H [CAC] Coding Sequence Variant
ankyrin-2 isoform X6 XP_016863562.1:p.Pro261...

XP_016863562.1:p.Pro2615His

P (Pro) > H (His) Missense Variant
ANK2 transcript variant X7 XM_017008074.2:c.7817C>A P [CCC] > H [CAC] Coding Sequence Variant
ankyrin-2 isoform X7 XP_016863563.1:p.Pro260...

XP_016863563.1:p.Pro2606His

P (Pro) > H (His) Missense Variant
ANK2 transcript variant X8 XM_017008075.2:c.7781C>A P [CCC] > H [CAC] Coding Sequence Variant
ankyrin-2 isoform X8 XP_016863564.1:p.Pro259...

XP_016863564.1:p.Pro2594His

P (Pro) > H (His) Missense Variant
ANK2 transcript variant X9 XM_017008076.2:c.7844C>A P [CCC] > H [CAC] Coding Sequence Variant
ankyrin-2 isoform X9 XP_016863565.1:p.Pro261...

XP_016863565.1:p.Pro2615His

P (Pro) > H (His) Missense Variant
ANK2 transcript variant X10 XM_017008077.2:c.7658C>A P [CCC] > H [CAC] Coding Sequence Variant
ankyrin-2 isoform X10 XP_016863566.1:p.Pro255...

XP_016863566.1:p.Pro2553His

P (Pro) > H (His) Missense Variant
ANK2 transcript variant X11 XM_005262945.3:c.7745C>A P [CCC] > H [CAC] Coding Sequence Variant
ankyrin-2 isoform X11 XP_005263002.1:p.Pro258...

XP_005263002.1:p.Pro2582His

P (Pro) > H (His) Missense Variant
Help

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: 188997 )
ClinVar Accession Disease Names Clinical Significance
RCV000171380.1 not provided Likely-Pathogenic
Help

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").

None
Help

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 Note
GRCh38.p12 chr 4 NC_000004.12:g.113356462C= NC_000004.12:g.11335646...

NC_000004.12:g.113356462C>A

GRCh37.p13 chr 4 NC_000004.11:g.114277618C= NC_000004.11:g.11427761...

NC_000004.11:g.114277618C>A

ANK2 RefSeqGene (LRG_327) NG_009006.2:g.543380C= NG_009006.2:g.543380C>A
ANK2 transcript variant 1 NM_001148.5:c.7844C= NM_001148.5:c.7844C>A
ANK2 transcript variant 1 NM_001148.4:c.7844C= NM_001148.4:c.7844C>A
ANK2 transcript variant X11 XM_005262945.3:c.7745C= XM_005262945.3:c.7745C>A
ANK2 transcript variant X4 XM_005262945.1:c.7745C= XM_005262945.1:c.7745C>A
ANK2 transcript variant X4 XM_017008071.2:c.7871C= XM_017008071.2:c.7871C>A
ANK2 transcript variant X5 XM_017008072.2:c.7847C= XM_017008072.2:c.7847C>A
ANK2 transcript variant X7 XM_017008074.2:c.7817C= XM_017008074.2:c.7817C>A
ANK2 transcript variant X8 XM_017008075.2:c.7781C= XM_017008075.2:c.7781C>A
ANK2 transcript variant X6 XM_017008073.2:c.7844C= XM_017008073.2:c.7844C>A
ANK2 transcript variant X10 XM_017008077.2:c.7658C= XM_017008077.2:c.7658C>A
ANK2 transcript variant X9 XM_017008076.2:c.7844C= XM_017008076.2:c.7844C>A
ANK2 transcript variant X1 XM_017008067.1:c.7985C= XM_017008067.1:c.7985C>A
ANK2 transcript variant X2 XM_017008069.1:c.7961C= XM_017008069.1:c.7961C>A
ANK2 transcript variant X3 XM_024454016.1:c.7880C= XM_024454016.1:c.7880C>A
ankyrin-2 isoform 1 NP_001139.3:p.Pro2615= NP_001139.3:p.Pro2615His
ankyrin-2 isoform X11 XP_005263002.1:p.Pro2582= XP_005263002.1:p.Pro258...

XP_005263002.1:p.Pro2582His

ankyrin-2 isoform X4 XP_016863560.1:p.Pro2624= XP_016863560.1:p.Pro262...

XP_016863560.1:p.Pro2624His

ankyrin-2 isoform X5 XP_016863561.1:p.Pro2616= XP_016863561.1:p.Pro261...

XP_016863561.1:p.Pro2616His

ankyrin-2 isoform X7 XP_016863563.1:p.Pro2606= XP_016863563.1:p.Pro260...

XP_016863563.1:p.Pro2606His

ankyrin-2 isoform X8 XP_016863564.1:p.Pro2594= XP_016863564.1:p.Pro259...

XP_016863564.1:p.Pro2594His

ankyrin-2 isoform X6 XP_016863562.1:p.Pro2615= XP_016863562.1:p.Pro261...

XP_016863562.1:p.Pro2615His

ankyrin-2 isoform X10 XP_016863566.1:p.Pro2553= XP_016863566.1:p.Pro255...

XP_016863566.1:p.Pro2553His

ankyrin-2 isoform X9 XP_016863565.1:p.Pro2615= XP_016863565.1:p.Pro261...

XP_016863565.1:p.Pro2615His

ankyrin-2 isoform X1 XP_016863556.1:p.Pro2662= XP_016863556.1:p.Pro266...

XP_016863556.1:p.Pro2662His

ankyrin-2 isoform X2 XP_016863558.1:p.Pro2654= XP_016863558.1:p.Pro265...

XP_016863558.1:p.Pro2654His

ankyrin-2 isoform X3 XP_024309784.1:p.Pro2627= XP_024309784.1:p.Pro262...

XP_024309784.1:p.Pro2627His

Help

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#.

1 SubSNP, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CLINVAR ss1774855819 Jun 22, 2015 (144)
2 ClinVar RCV000171380.1 Oct 12, 2018 (152)
Help

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).

Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss1774855819 NC_000004.12:113356461:C= NC_000004.12:113356461:C= (self)
RCV000171380.1, ss1774855819 NC_000004.12:113356461:C>A NC_000004.12:113356461:C>A (self)
Help

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

1 citation for rs786205571
PMID Title Author Year Journal
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

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.

Software version is: 2.0.1.post76+b4aec9c