Canonical Allele Identifier: CA479694126

Gene: ARID2

Linked Data

• dbSNP Id: rs1252347210
• gnomAD v2: 12-46246514-T-C
• gnomAD v4: 12-45852731-T-C
• MyVariant Identifiers: chr12:g.46246514T>C (hg19) ; chr12:g.45852731T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852731T>C , CM000674.2:g.45852731T>C	GRCh38
NC_000012.11:g.46246514T>C , CM000674.1:g.46246514T>C	GRCh37
NC_000012.10:g.44532781T>C	NCBI36
NG_052800.1:g.128067T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4608T>C	ENSP00000415650.3:p.Val1536=
ENST00000457135.2:c.817T>C
ENST00000334344.11:c.4608T>C MANE Select	ENSP00000335044.6:p.Val1536=
ENST00000422737.6:c.4529T>C
ENST00000334344.10:c.4608T>C	ENSP00000335044.6:p.Val1536=
ENST00000422737.5:c.4161T>C	ENSP00000415650.1:p.Val1387=
ENST00000444670.5:c.3438T>C	ENSP00000397307.1:p.Val1146=
ENST00000457135.1:c.432T>C	ENSP00000388357.1:p.Val144=
ENST00000479608.5:n.3899T>C
NM_152641.2:c.4608T>C	NP_689854.2:p.Val1536=
XM_006719272.2:c.4608T>C	XP_006719335.1:p.Val1536=
XM_011538025.1:c.2976T>C	XP_011536327.1:p.Val992=
XR_944505.1:n.4756T>C
NM_001347839.1:c.4608T>C	NP_001334768.1:p.Val1536=
NM_152641.3:c.4608T>C	NP_689854.2:p.Val1536=
XM_006719272.4:c.4608T>C	XP_006719335.1:p.Val1536=
XR_944505.3:n.4739T>C
NM_152641.4:c.4608T>C MANE Select	NP_689854.2:p.Val1536=
NM_001347839.2:c.4608T>C	NP_001334768.1:p.Val1536=