Allele Registry

Canonical Allele Identifier: CA15157714

Gene: PLA2R1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr2:g.160060986A>G

GRCh37 chr2:g.160917497A>G

Linked Data - Sequence & Population

gnomAD v2:

2:160917497 A / G

gnomAD v3:

2:160060986 A / G

gnomAD v4:

chr2-160060986-A-G

Joint Max Group AF 0.41199056 (NFE)

Genomes Max Group AF 0.41199056 (NFE)

Linked Data - NCBI & NCI

dbSNP:

4664308

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.160060986A>G , CM000664.2:g.160060986A>G	GRCh38
NC_000002.11:g.160917497A>G , CM000664.1:g.160917497A>G	GRCh37
NC_000002.10:g.160625743A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283243.13:c.109+1309T>C MANE Select	ENSP00000283243.7:n.109+1309T>C
ENST00000283243.11:c.109+1309T>C	ENSP00000283243.7:n.109+1309T>C
ENST00000392771.1:c.109+1309T>C	ENSP00000376524.1:n.109+1309T>C
NM_001007267.2:c.109+1309T>C	NP_001007268.1:n.109+1309T>C
NM_001195641.1:c.109+1309T>C	NP_001182570.1:n.109+1309T>C
NM_007366.4:c.109+1309T>C	NP_031392.3:n.109+1309T>C
XM_005246392.2:c.109+1309T>C	XP_005246449.1:n.109+1309T>C
XM_005246393.2:c.109+1309T>C	XP_005246450.1:n.109+1309T>C
XM_011510820.1:c.109+1309T>C	XP_011509122.1:n.109+1309T>C
XR_922892.1:n.608+1309T>C
XR_923525.1:n.1038+33A>G
XM_005246392.4:c.109+1309T>C	XP_005246449.1:n.109+1309T>C
XM_011510820.3:c.109+1309T>C	XP_011509122.1:n.109+1309T>C
XM_017003598.1:c.109+1309T>C	XP_016859087.1:n.109+1309T>C
XM_017003599.1:c.109+1309T>C	XP_016859088.1:n.109+1309T>C
XM_017003601.2:c.109+1309T>C	XP_016859090.1:n.109+1309T>C
XR_001738671.2:n.209+1309T>C
XR_001738672.2:n.209+1309T>C
XR_001738673.1:n.209+1309T>C
XR_922892.3:n.209+1309T>C
NM_007366.5:c.109+1309T>C MANE Select	NP_031392.3:n.109+1309T>C
NM_001195641.2:c.109+1309T>C	NP_001182570.1:n.109+1309T>C
NM_001007267.3:c.109+1309T>C	NP_001007268.1:n.109+1309T>C

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