Canonical Allele Identifier: CA384491982

Gene: ARID2

Linked Data

• dbSNP Id: rs2138180588
• gnomAD v4: 12-45852684-G-C
• MyVariant Identifiers: chr12:g.46246467G>C (hg19) ; chr12:g.45852684G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852684G>C , CM000674.2:g.45852684G>C	GRCh38
NC_000012.11:g.46246467G>C , CM000674.1:g.46246467G>C	GRCh37
NC_000012.10:g.44532734G>C	NCBI36
NG_052800.1:g.128020G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4561G>C	ENSP00000415650.3:p.Asp1521His
ENST00000457135.2:c.770G>C
ENST00000334344.11:c.4561G>C MANE Select	ENSP00000335044.6:p.Asp1521His
ENST00000422737.6:c.4482G>C
ENST00000334344.10:c.4561G>C	ENSP00000335044.6:p.Asp1521His
ENST00000422737.5:c.4114G>C	ENSP00000415650.1:p.Asp1372His
ENST00000444670.5:c.3391G>C	ENSP00000397307.1:p.Asp1131His
ENST00000457135.1:c.385G>C	ENSP00000388357.1:p.Asp129His
ENST00000479608.5:n.3852G>C
NM_152641.2:c.4561G>C	NP_689854.2:p.Asp1521His
XM_006719272.2:c.4561G>C	XP_006719335.1:p.Asp1521His
XM_011538025.1:c.2929G>C	XP_011536327.1:p.Asp977His
XR_944505.1:n.4709G>C
NM_001347839.1:c.4561G>C	NP_001334768.1:p.Asp1521His
NM_152641.3:c.4561G>C	NP_689854.2:p.Asp1521His
XM_006719272.4:c.4561G>C	XP_006719335.1:p.Asp1521His
XR_944505.3:n.4692G>C
NM_152641.4:c.4561G>C MANE Select	NP_689854.2:p.Asp1521His
NM_001347839.2:c.4561G>C	NP_001334768.1:p.Asp1521His