Canonical Allele Identifier: CA384492450

Gene: ARID2

Linked Data

• dbSNP Id: rs1943581809
• gnomAD v4: 12-45852834-G-C
• MyVariant Identifiers: chr12:g.46246617G>C (hg19) ; chr12:g.45852834G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852834G>C , CM000674.2:g.45852834G>C	GRCh38
NC_000012.11:g.46246617G>C , CM000674.1:g.46246617G>C	GRCh37
NC_000012.10:g.44532884G>C	NCBI36
NG_052800.1:g.128170G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4711G>C	ENSP00000415650.3:p.Glu1571Gln
ENST00000457135.2:c.920G>C
ENST00000334344.11:c.4711G>C MANE Select	ENSP00000335044.6:p.Glu1571Gln
ENST00000422737.6:c.4632G>C
ENST00000334344.10:c.4711G>C	ENSP00000335044.6:p.Glu1571Gln
ENST00000422737.5:c.4264G>C	ENSP00000415650.1:p.Glu1422Gln
ENST00000444670.5:c.3541G>C	ENSP00000397307.1:p.Glu1181Gln
ENST00000457135.1:c.535G>C	ENSP00000388357.1:p.Glu179Gln
ENST00000479608.5:n.4002G>C
NM_152641.2:c.4711G>C	NP_689854.2:p.Glu1571Gln
XM_006719272.2:c.4711G>C	XP_006719335.1:p.Glu1571Gln
XM_011538025.1:c.3079G>C	XP_011536327.1:p.Glu1027Gln
XR_944505.1:n.4859G>C
NM_001347839.1:c.4711G>C	NP_001334768.1:p.Glu1571Gln
NM_152641.3:c.4711G>C	NP_689854.2:p.Glu1571Gln
XM_006719272.4:c.4711G>C	XP_006719335.1:p.Glu1571Gln
XR_944505.3:n.4842G>C
NM_152641.4:c.4711G>C MANE Select	NP_689854.2:p.Glu1571Gln
NM_001347839.2:c.4711G>C	NP_001334768.1:p.Glu1571Gln