Canonical Allele Identifier: CA479694085

Gene: ARID2

Linked Data

• dbSNP Id: rs1362202768
• gnomAD v2: 12-46246457-G-A
• gnomAD v4: 12-45852674-G-A
• MyVariant Identifiers: chr12:g.46246457G>A (hg19) ; chr12:g.45852674G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852674G>A , CM000674.2:g.45852674G>A	GRCh38
NC_000012.11:g.46246457G>A , CM000674.1:g.46246457G>A	GRCh37
NC_000012.10:g.44532724G>A	NCBI36
NG_052800.1:g.128010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4551G>A	ENSP00000415650.3:p.Arg1517=
ENST00000457135.2:c.760G>A
ENST00000334344.11:c.4551G>A MANE Select	ENSP00000335044.6:p.Arg1517=
ENST00000422737.6:c.4472G>A
ENST00000334344.10:c.4551G>A	ENSP00000335044.6:p.Arg1517=
ENST00000422737.5:c.4104G>A	ENSP00000415650.1:p.Arg1368=
ENST00000444670.5:c.3381G>A	ENSP00000397307.1:p.Arg1127=
ENST00000457135.1:c.375G>A	ENSP00000388357.1:p.Arg125=
ENST00000479608.5:n.3842G>A
NM_152641.2:c.4551G>A	NP_689854.2:p.Arg1517=
XM_006719272.2:c.4551G>A	XP_006719335.1:p.Arg1517=
XM_011538025.1:c.2919G>A	XP_011536327.1:p.Arg973=
XR_944505.1:n.4699G>A
NM_001347839.1:c.4551G>A	NP_001334768.1:p.Arg1517=
NM_152641.3:c.4551G>A	NP_689854.2:p.Arg1517=
XM_006719272.4:c.4551G>A	XP_006719335.1:p.Arg1517=
XR_944505.3:n.4682G>A
NM_152641.4:c.4551G>A MANE Select	NP_689854.2:p.Arg1517=
NM_001347839.2:c.4551G>A	NP_001334768.1:p.Arg1517=