Canonical Allele Identifier: CA384492505

Gene: ARID2

Linked Data

• gnomAD v4: 12-45852843-G-T
• COSMIC: COSM307378
• MyVariant Identifiers: chr12:g.46246626G>T (hg19) ; chr12:g.45852843G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852843G>T , CM000674.2:g.45852843G>T	GRCh38
NC_000012.11:g.46246626G>T , CM000674.1:g.46246626G>T	GRCh37
NC_000012.10:g.44532893G>T	NCBI36
NG_052800.1:g.128179G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4720G>T	ENSP00000415650.3:p.Val1574Phe
ENST00000457135.2:c.929G>T
ENST00000334344.11:c.4720G>T MANE Select	ENSP00000335044.6:p.Val1574Phe
ENST00000422737.6:c.4641G>T
ENST00000334344.10:c.4720G>T	ENSP00000335044.6:p.Val1574Phe
ENST00000422737.5:c.4273G>T	ENSP00000415650.1:p.Val1425Phe
ENST00000444670.5:c.3550G>T	ENSP00000397307.1:p.Val1184Phe
ENST00000457135.1:c.544G>T	ENSP00000388357.1:p.Val182Phe
ENST00000479608.5:n.4011G>T
NM_152641.2:c.4720G>T	NP_689854.2:p.Val1574Phe
XM_006719272.2:c.4720G>T	XP_006719335.1:p.Val1574Phe
XM_011538025.1:c.3088G>T	XP_011536327.1:p.Val1030Phe
XR_944505.1:n.4868G>T
NM_001347839.1:c.4720G>T	NP_001334768.1:p.Val1574Phe
NM_152641.3:c.4720G>T	NP_689854.2:p.Val1574Phe
XM_006719272.4:c.4720G>T	XP_006719335.1:p.Val1574Phe
XR_944505.3:n.4851G>T
NM_152641.4:c.4720G>T MANE Select	NP_689854.2:p.Val1574Phe
NM_001347839.2:c.4720G>T	NP_001334768.1:p.Val1574Phe