Canonical Allele Identifier: CA384492425

Gene: ARID2

Linked Data

• dbSNP Id: rs2138181752
• gnomAD v4: 12-45852829-C-T
• MyVariant Identifiers: chr12:g.46246612C>T (hg19) ; chr12:g.45852829C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852829C>T , CM000674.2:g.45852829C>T	GRCh38
NC_000012.11:g.46246612C>T , CM000674.1:g.46246612C>T	GRCh37
NC_000012.10:g.44532879C>T	NCBI36
NG_052800.1:g.128165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4706C>T	ENSP00000415650.3:p.Ala1569Val
ENST00000457135.2:c.915C>T
ENST00000334344.11:c.4706C>T MANE Select	ENSP00000335044.6:p.Ala1569Val
ENST00000422737.6:c.4627C>T
ENST00000334344.10:c.4706C>T	ENSP00000335044.6:p.Ala1569Val
ENST00000422737.5:c.4259C>T	ENSP00000415650.1:p.Ala1420Val
ENST00000444670.5:c.3536C>T	ENSP00000397307.1:p.Ala1179Val
ENST00000457135.1:c.530C>T	ENSP00000388357.1:p.Ala177Val
ENST00000479608.5:n.3997C>T
NM_152641.2:c.4706C>T	NP_689854.2:p.Ala1569Val
XM_006719272.2:c.4706C>T	XP_006719335.1:p.Ala1569Val
XM_011538025.1:c.3074C>T	XP_011536327.1:p.Ala1025Val
XR_944505.1:n.4854C>T
NM_001347839.1:c.4706C>T	NP_001334768.1:p.Ala1569Val
NM_152641.3:c.4706C>T	NP_689854.2:p.Ala1569Val
XM_006719272.4:c.4706C>T	XP_006719335.1:p.Ala1569Val
XR_944505.3:n.4837C>T
NM_152641.4:c.4706C>T MANE Select	NP_689854.2:p.Ala1569Val
NM_001347839.2:c.4706C>T	NP_001334768.1:p.Ala1569Val