Canonical Allele Identifier: CA384491919

Gene: ARID2

Linked Data

• dbSNP Id: rs1412402523
• gnomAD v2: 12-46246438-A-C
• gnomAD v4: 12-45852655-A-C
• MyVariant Identifiers: chr12:g.46246438A>C (hg19) ; chr12:g.45852655A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852655A>C , CM000674.2:g.45852655A>C	GRCh38
NC_000012.11:g.46246438A>C , CM000674.1:g.46246438A>C	GRCh37
NC_000012.10:g.44532705A>C	NCBI36
NG_052800.1:g.127991A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4532A>C	ENSP00000415650.3:p.Glu1511Ala
ENST00000457135.2:c.741A>C
ENST00000334344.11:c.4532A>C MANE Select	ENSP00000335044.6:p.Glu1511Ala
ENST00000422737.6:c.4453A>C
ENST00000334344.10:c.4532A>C	ENSP00000335044.6:p.Glu1511Ala
ENST00000422737.5:c.4085A>C	ENSP00000415650.1:p.Glu1362Ala
ENST00000444670.5:c.3362A>C	ENSP00000397307.1:p.Glu1121Ala
ENST00000457135.1:c.356A>C	ENSP00000388357.1:p.Glu119Ala
ENST00000479608.5:n.3823A>C
NM_152641.2:c.4532A>C	NP_689854.2:p.Glu1511Ala
XM_006719272.2:c.4532A>C	XP_006719335.1:p.Glu1511Ala
XM_011538025.1:c.2900A>C	XP_011536327.1:p.Glu967Ala
XR_944505.1:n.4680A>C
NM_001347839.1:c.4532A>C	NP_001334768.1:p.Glu1511Ala
NM_152641.3:c.4532A>C	NP_689854.2:p.Glu1511Ala
XM_006719272.4:c.4532A>C	XP_006719335.1:p.Glu1511Ala
XR_944505.3:n.4663A>C
NM_152641.4:c.4532A>C MANE Select	NP_689854.2:p.Glu1511Ala
NM_001347839.2:c.4532A>C	NP_001334768.1:p.Glu1511Ala