Canonical Allele Identifier: CA384492091

Gene: ARID2

Linked Data

• dbSNP Id: rs1176843459
• gnomAD v2: 12-46246518-A-G
• gnomAD v4: 12-45852735-A-G
• MyVariant Identifiers: chr12:g.46246518A>G (hg19) ; chr12:g.45852735A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852735A>G , CM000674.2:g.45852735A>G	GRCh38
NC_000012.11:g.46246518A>G , CM000674.1:g.46246518A>G	GRCh37
NC_000012.10:g.44532785A>G	NCBI36
NG_052800.1:g.128071A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4612A>G	ENSP00000415650.3:p.Ile1538Val
ENST00000457135.2:c.821A>G
ENST00000334344.11:c.4612A>G MANE Select	ENSP00000335044.6:p.Ile1538Val
ENST00000422737.6:c.4533A>G
ENST00000334344.10:c.4612A>G	ENSP00000335044.6:p.Ile1538Val
ENST00000422737.5:c.4165A>G	ENSP00000415650.1:p.Ile1389Val
ENST00000444670.5:c.3442A>G	ENSP00000397307.1:p.Ile1148Val
ENST00000457135.1:c.436A>G	ENSP00000388357.1:p.Ile146Val
ENST00000479608.5:n.3903A>G
NM_152641.2:c.4612A>G	NP_689854.2:p.Ile1538Val
XM_006719272.2:c.4612A>G	XP_006719335.1:p.Ile1538Val
XM_011538025.1:c.2980A>G	XP_011536327.1:p.Ile994Val
XR_944505.1:n.4760A>G
NM_001347839.1:c.4612A>G	NP_001334768.1:p.Ile1538Val
NM_152641.3:c.4612A>G	NP_689854.2:p.Ile1538Val
XM_006719272.4:c.4612A>G	XP_006719335.1:p.Ile1538Val
XR_944505.3:n.4743A>G
NM_152641.4:c.4612A>G MANE Select	NP_689854.2:p.Ile1538Val
NM_001347839.2:c.4612A>G	NP_001334768.1:p.Ile1538Val