Canonical Allele Identifier: CA384492101

Gene: ARID2

Linked Data

• gnomAD v4: 12-45852739-T-C
• MyVariant Identifiers: chr12:g.46246522T>C (hg19) ; chr12:g.45852739T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852739T>C , CM000674.2:g.45852739T>C	GRCh38
NC_000012.11:g.46246522T>C , CM000674.1:g.46246522T>C	GRCh37
NC_000012.10:g.44532789T>C	NCBI36
NG_052800.1:g.128075T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4616T>C	ENSP00000415650.3:p.Val1539Ala
ENST00000457135.2:c.825T>C
ENST00000334344.11:c.4616T>C MANE Select	ENSP00000335044.6:p.Val1539Ala
ENST00000422737.6:c.4537T>C
ENST00000334344.10:c.4616T>C	ENSP00000335044.6:p.Val1539Ala
ENST00000422737.5:c.4169T>C	ENSP00000415650.1:p.Val1390Ala
ENST00000444670.5:c.3446T>C	ENSP00000397307.1:p.Val1149Ala
ENST00000457135.1:c.440T>C	ENSP00000388357.1:p.Val147Ala
ENST00000479608.5:n.3907T>C
NM_152641.2:c.4616T>C	NP_689854.2:p.Val1539Ala
XM_006719272.2:c.4616T>C	XP_006719335.1:p.Val1539Ala
XM_011538025.1:c.2984T>C	XP_011536327.1:p.Val995Ala
XR_944505.1:n.4764T>C
NM_001347839.1:c.4616T>C	NP_001334768.1:p.Val1539Ala
NM_152641.3:c.4616T>C	NP_689854.2:p.Val1539Ala
XM_006719272.4:c.4616T>C	XP_006719335.1:p.Val1539Ala
XR_944505.3:n.4747T>C
NM_152641.4:c.4616T>C MANE Select	NP_689854.2:p.Val1539Ala
NM_001347839.2:c.4616T>C	NP_001334768.1:p.Val1539Ala