Canonical Allele Identifier: CA384491995

Gene: ARID2

Linked Data

• dbSNP Id: rs2138180629
• gnomAD v4: 12-45852690-G-C
• MyVariant Identifiers: chr12:g.46246473G>C (hg19) ; chr12:g.45852690G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852690G>C , CM000674.2:g.45852690G>C	GRCh38
NC_000012.11:g.46246473G>C , CM000674.1:g.46246473G>C	GRCh37
NC_000012.10:g.44532740G>C	NCBI36
NG_052800.1:g.128026G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4567G>C	ENSP00000415650.3:p.Asp1523His
ENST00000457135.2:c.776G>C
ENST00000334344.11:c.4567G>C MANE Select	ENSP00000335044.6:p.Asp1523His
ENST00000422737.6:c.4488G>C
ENST00000334344.10:c.4567G>C	ENSP00000335044.6:p.Asp1523His
ENST00000422737.5:c.4120G>C	ENSP00000415650.1:p.Asp1374His
ENST00000444670.5:c.3397G>C	ENSP00000397307.1:p.Asp1133His
ENST00000457135.1:c.391G>C	ENSP00000388357.1:p.Asp131His
ENST00000479608.5:n.3858G>C
NM_152641.2:c.4567G>C	NP_689854.2:p.Asp1523His
XM_006719272.2:c.4567G>C	XP_006719335.1:p.Asp1523His
XM_011538025.1:c.2935G>C	XP_011536327.1:p.Asp979His
XR_944505.1:n.4715G>C
NM_001347839.1:c.4567G>C	NP_001334768.1:p.Asp1523His
NM_152641.3:c.4567G>C	NP_689854.2:p.Asp1523His
XM_006719272.4:c.4567G>C	XP_006719335.1:p.Asp1523His
XR_944505.3:n.4698G>C
NM_152641.4:c.4567G>C MANE Select	NP_689854.2:p.Asp1523His
NM_001347839.2:c.4567G>C	NP_001334768.1:p.Asp1523His