Canonical Allele Identifier: CA479694209
Gene: ARID2 HGNC NCBI

Linked Data

ClinVar Variation Id: 744521
ClinVar RCV Id: RCV000920981
dbSNP Id: rs1042420209
MyVariant Identifiers: chr12:g.46246598T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.45852815T>C , CM000674.2:g.45852815T>C GRCh38
NC_000012.11:g.46246598T>C , CM000674.1:g.46246598T>C GRCh37
NC_000012.10:g.44532865T>C NCBI36
NG_052800.1:g.128151T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000422737.7:c.4692T>C ENSP00000415650.3:p.Thr1564=
ENST00000457135.2:c.901T>C
ENST00000334344.11:c.4692T>C MANE Select ENSP00000335044.6:p.Thr1564=
ENST00000422737.6:c.4613T>C
ENST00000334344.10:c.4692T>C ENSP00000335044.6:p.Thr1564=
ENST00000422737.5:c.4245T>C ENSP00000415650.1:p.Thr1415=
ENST00000444670.5:c.3522T>C ENSP00000397307.1:p.Thr1174=
ENST00000457135.1:c.516T>C ENSP00000388357.1:p.Thr172=
ENST00000479608.5:n.3983T>C
NM_152641.2:c.4692T>C NP_689854.2:p.Thr1564=
XM_006719272.2:c.4692T>C XP_006719335.1:p.Thr1564=
XM_011538025.1:c.3060T>C XP_011536327.1:p.Thr1020=
XR_944505.1:n.4840T>C
NM_001347839.1:c.4692T>C NP_001334768.1:p.Thr1564=
NM_152641.3:c.4692T>C NP_689854.2:p.Thr1564=
XM_006719272.4:c.4692T>C XP_006719335.1:p.Thr1564=
XR_944505.3:n.4823T>C
NM_152641.4:c.4692T>C MANE Select NP_689854.2:p.Thr1564=
NM_001347839.2:c.4692T>C NP_001334768.1:p.Thr1564=