Canonical Allele Identifier: CA384492458

Gene: ARID2

Linked Data

• dbSNP Id: rs1484387669
• gnomAD v2: 12-46246618-A-T
• gnomAD v4: 12-45852835-A-T
• MyVariant Identifiers: chr12:g.46246618A>T (hg19) ; chr12:g.45852835A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852835A>T , CM000674.2:g.45852835A>T	GRCh38
NC_000012.11:g.46246618A>T , CM000674.1:g.46246618A>T	GRCh37
NC_000012.10:g.44532885A>T	NCBI36
NG_052800.1:g.128171A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4712A>T	ENSP00000415650.3:p.Glu1571Val
ENST00000457135.2:c.921A>T
ENST00000334344.11:c.4712A>T MANE Select	ENSP00000335044.6:p.Glu1571Val
ENST00000422737.6:c.4633A>T
ENST00000334344.10:c.4712A>T	ENSP00000335044.6:p.Glu1571Val
ENST00000422737.5:c.4265A>T	ENSP00000415650.1:p.Glu1422Val
ENST00000444670.5:c.3542A>T	ENSP00000397307.1:p.Glu1181Val
ENST00000457135.1:c.536A>T	ENSP00000388357.1:p.Glu179Val
ENST00000479608.5:n.4003A>T
NM_152641.2:c.4712A>T	NP_689854.2:p.Glu1571Val
XM_006719272.2:c.4712A>T	XP_006719335.1:p.Glu1571Val
XM_011538025.1:c.3080A>T	XP_011536327.1:p.Glu1027Val
XR_944505.1:n.4860A>T
NM_001347839.1:c.4712A>T	NP_001334768.1:p.Glu1571Val
NM_152641.3:c.4712A>T	NP_689854.2:p.Glu1571Val
XM_006719272.4:c.4712A>T	XP_006719335.1:p.Glu1571Val
XR_944505.3:n.4843A>T
NM_152641.4:c.4712A>T MANE Select	NP_689854.2:p.Glu1571Val
NM_001347839.2:c.4712A>T	NP_001334768.1:p.Glu1571Val