Canonical Allele Identifier: CA6526662

Gene: ARID2

Linked Data

• ClinVar Variation Id: 2291554
• ClinVar RCV Id: RCV002832272
• dbSNP Id: rs749439841
• ExAC: 12:46246354 T / C
• gnomAD v2: 12-46246354-T-C
• gnomAD v4: 12-45852571-T-C
• MyVariant Identifiers: chr12:g.46246354T>C (hg19) ; chr12:g.45852571T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852571T>C , CM000674.2:g.45852571T>C	GRCh38
NC_000012.11:g.46246354T>C , CM000674.1:g.46246354T>C	GRCh37
NC_000012.10:g.44532621T>C	NCBI36
NG_052800.1:g.127907T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4448T>C	ENSP00000415650.3:p.Ile1483Thr
ENST00000457135.2:c.657T>C
ENST00000334344.11:c.4448T>C MANE Select	ENSP00000335044.6:p.Ile1483Thr
ENST00000422737.6:c.4369T>C
ENST00000334344.10:c.4448T>C	ENSP00000335044.6:p.Ile1483Thr
ENST00000422737.5:c.4001T>C	ENSP00000415650.1:p.Ile1334Thr
ENST00000444670.5:c.3278T>C	ENSP00000397307.1:p.Ile1093Thr
ENST00000457135.1:c.272T>C	ENSP00000388357.1:p.Ile91Thr
ENST00000479608.5:n.3739T>C
NM_152641.2:c.4448T>C	NP_689854.2:p.Ile1483Thr
XM_006719272.2:c.4448T>C	XP_006719335.1:p.Ile1483Thr
XM_011538025.1:c.2816T>C	XP_011536327.1:p.Ile939Thr
XR_944505.1:n.4596T>C
NM_001347839.1:c.4448T>C	NP_001334768.1:p.Ile1483Thr
NM_152641.3:c.4448T>C	NP_689854.2:p.Ile1483Thr
XM_006719272.4:c.4448T>C	XP_006719335.1:p.Ile1483Thr
XR_944505.3:n.4579T>C
NM_152641.4:c.4448T>C MANE Select	NP_689854.2:p.Ile1483Thr
NM_001347839.2:c.4448T>C	NP_001334768.1:p.Ile1483Thr