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dbSNP Short Genetic Variations

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.

rs1472145186

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:1003742 (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=0.000007 (1/140224, GnomAD)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AP2A2 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Genomes Global Study-wide 140224 G=0.999993 A=0.000007
gnomAD - Genomes European Sub 75940 G=0.99999 A=0.00001
gnomAD - Genomes African Sub 42026 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13650 G=1.00000 A=0.00000
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 2154 G=1.0000 A=0.0000
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.p14 chr 11 NC_000011.10:g.1003742G>A
GRCh37.p13 chr 11 NC_000011.9:g.1003742G>A
GRCh38.p14 chr 11 alt locus HSCHR11_3_CTG1 NT_187681.1:g.73183G>A
GRCh38.p14 chr 11 alt locus HSCHR11_2_CTG1 NT_187656.1:g.66485G>A
Gene: AP2A2, adaptor related protein complex 2 subunit alpha 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AP2A2 transcript variant 2 NM_012305.4:c.2144G>A G [GGT] > D [GAT] Coding Sequence Variant
AP-2 complex subunit alpha-2 isoform 2 NP_036437.1:p.Gly715Asp G (Gly) > D (Asp) Missense Variant
AP2A2 transcript variant 1 NM_001242837.2:c.2147G>A G [GGT] > D [GAT] Coding Sequence Variant
AP-2 complex subunit alpha-2 isoform 1 NP_001229766.1:p.Gly716Asp G (Gly) > D (Asp) Missense Variant
AP2A2 transcript variant 4 NR_144510.2:n.2132G>A N/A Non Coding Transcript Variant
AP2A2 transcript variant 3 NR_144509.2:n.2129G>A N/A Non Coding Transcript Variant
AP2A2 transcript variant X8 XM_011519930.4:c. N/A Genic Downstream Transcript Variant
AP2A2 transcript variant X1 XM_011519929.2:c.1919G>A G [GGT] > D [GAT] Coding Sequence Variant
AP-2 complex subunit alpha-2 isoform X1 XP_011518231.1:p.Gly640Asp G (Gly) > D (Asp) Missense Variant
AP2A2 transcript variant X2 XM_047426479.1:c.1919G>A G [GGT] > D [GAT] Coding Sequence Variant
AP-2 complex subunit alpha-2 isoform X1 XP_047282435.1:p.Gly640Asp G (Gly) > D (Asp) Missense Variant
AP2A2 transcript variant X3 XM_047426480.1:c.1919G>A G [GGT] > D [GAT] Coding Sequence Variant
AP-2 complex subunit alpha-2 isoform X1 XP_047282436.1:p.Gly640Asp G (Gly) > D (Asp) Missense Variant
AP2A2 transcript variant X4 XM_047426481.1:c.1919G>A G [GGT] > D [GAT] Coding Sequence Variant
AP-2 complex subunit alpha-2 isoform X1 XP_047282437.1:p.Gly640Asp G (Gly) > D (Asp) Missense Variant
AP2A2 transcript variant X5 XM_047426482.1:c.1919G>A G [GGT] > D [GAT] Coding Sequence Variant
AP-2 complex subunit alpha-2 isoform X1 XP_047282438.1:p.Gly640Asp G (Gly) > D (Asp) Missense Variant
AP2A2 transcript variant X6 XM_047426484.1:c.1916G>A G [GGT] > D [GAT] Coding Sequence Variant
AP-2 complex subunit alpha-2 isoform X2 XP_047282440.1:p.Gly639Asp G (Gly) > D (Asp) Missense Variant
AP2A2 transcript variant X7 XM_047426485.1:c.1919G>A G [GGT] > D [GAT] Coding Sequence Variant
AP-2 complex subunit alpha-2 isoform X1 XP_047282441.1:p.Gly640Asp G (Gly) > D (Asp) 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.

Not Reported in ClinVar
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 G= A
GRCh38.p14 chr 11 NC_000011.10:g.1003742= NC_000011.10:g.1003742G>A
GRCh37.p13 chr 11 NC_000011.9:g.1003742= NC_000011.9:g.1003742G>A
GRCh38.p14 chr 11 alt locus HSCHR11_3_CTG1 NT_187681.1:g.73183= NT_187681.1:g.73183G>A
GRCh38.p14 chr 11 alt locus HSCHR11_2_CTG1 NT_187656.1:g.66485= NT_187656.1:g.66485G>A
AP2A2 transcript variant 2 NM_012305.4:c.2144= NM_012305.4:c.2144G>A
AP2A2 transcript variant 2 NM_012305.3:c.2144= NM_012305.3:c.2144G>A
AP2A2 transcript variant 1 NM_001242837.2:c.2147= NM_001242837.2:c.2147G>A
AP2A2 transcript variant 1 NM_001242837.1:c.2147= NM_001242837.1:c.2147G>A
AP2A2 transcript variant X1 XM_011519929.2:c.1919= XM_011519929.2:c.1919G>A
AP2A2 transcript variant X1 XM_011519929.1:c.1919= XM_011519929.1:c.1919G>A
AP2A2 transcript variant 4 NR_144510.2:n.2132= NR_144510.2:n.2132G>A
AP2A2 transcript variant 4 NR_144510.1:n.2193= NR_144510.1:n.2193G>A
AP2A2 transcript variant 3 NR_144509.2:n.2129= NR_144509.2:n.2129G>A
AP2A2 transcript variant 3 NR_144509.1:n.2190= NR_144509.1:n.2190G>A
AP2A2 transcript variant X3 XM_047426480.1:c.1919= XM_047426480.1:c.1919G>A
AP2A2 transcript variant X2 XM_047426479.1:c.1919= XM_047426479.1:c.1919G>A
AP2A2 transcript variant X5 XM_047426482.1:c.1919= XM_047426482.1:c.1919G>A
AP2A2 transcript variant X6 XM_047426484.1:c.1916= XM_047426484.1:c.1916G>A
AP2A2 transcript variant X7 XM_047426485.1:c.1919= XM_047426485.1:c.1919G>A
AP2A2 transcript variant X4 XM_047426481.1:c.1919= XM_047426481.1:c.1919G>A
AP-2 complex subunit alpha-2 isoform 2 NP_036437.1:p.Gly715= NP_036437.1:p.Gly715Asp
AP-2 complex subunit alpha-2 isoform 1 NP_001229766.1:p.Gly716= NP_001229766.1:p.Gly716Asp
AP-2 complex subunit alpha-2 isoform X1 XP_011518231.1:p.Gly640= XP_011518231.1:p.Gly640Asp
AP-2 complex subunit alpha-2 isoform X1 XP_047282436.1:p.Gly640= XP_047282436.1:p.Gly640Asp
AP-2 complex subunit alpha-2 isoform X1 XP_047282435.1:p.Gly640= XP_047282435.1:p.Gly640Asp
AP-2 complex subunit alpha-2 isoform X1 XP_047282438.1:p.Gly640= XP_047282438.1:p.Gly640Asp
AP-2 complex subunit alpha-2 isoform X2 XP_047282440.1:p.Gly639= XP_047282440.1:p.Gly639Asp
AP-2 complex subunit alpha-2 isoform X1 XP_047282441.1:p.Gly640= XP_047282441.1:p.Gly640Asp
AP-2 complex subunit alpha-2 isoform X1 XP_047282437.1:p.Gly640= XP_047282437.1:p.Gly640Asp
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#.

2 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2748520803 Nov 08, 2017 (151)
2 GNOMAD ss2895424099 Nov 08, 2017 (151)
3 gnomAD - Genomes NC_000011.10 - 1003742 Apr 26, 2021 (155)
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
ss2748520803, ss2895424099 NC_000011.9:1003741:G:A NC_000011.10:1003741:G:A (self)
369127015 NC_000011.10:1003741:G:A NC_000011.10:1003741:G:A (self)
Help

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

No publications for rs1472145186

Help

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.

Software version is: 2.0.1.post820+afb47a3d