Canonical Allele Identifier: CA384491808

Gene: ARID2

Linked Data

• dbSNP Id: rs1943575510
• gnomAD v3: 12-45852598-A-C
• gnomAD v4: 12-45852598-A-C
• MyVariant Identifiers: chr12:g.46246381A>C (hg19) ; chr12:g.45852598A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852598A>C , CM000674.2:g.45852598A>C	GRCh38
NC_000012.11:g.46246381A>C , CM000674.1:g.46246381A>C	GRCh37
NC_000012.10:g.44532648A>C	NCBI36
NG_052800.1:g.127934A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4475A>C	ENSP00000415650.3:p.Lys1492Thr
ENST00000457135.2:c.684A>C
ENST00000334344.11:c.4475A>C MANE Select	ENSP00000335044.6:p.Lys1492Thr
ENST00000422737.6:c.4396A>C
ENST00000334344.10:c.4475A>C	ENSP00000335044.6:p.Lys1492Thr
ENST00000422737.5:c.4028A>C	ENSP00000415650.1:p.Lys1343Thr
ENST00000444670.5:c.3305A>C	ENSP00000397307.1:p.Lys1102Thr
ENST00000457135.1:c.299A>C	ENSP00000388357.1:p.Lys100Thr
ENST00000479608.5:n.3766A>C
NM_152641.2:c.4475A>C	NP_689854.2:p.Lys1492Thr
XM_006719272.2:c.4475A>C	XP_006719335.1:p.Lys1492Thr
XM_011538025.1:c.2843A>C	XP_011536327.1:p.Lys948Thr
XR_944505.1:n.4623A>C
NM_001347839.1:c.4475A>C	NP_001334768.1:p.Lys1492Thr
NM_152641.3:c.4475A>C	NP_689854.2:p.Lys1492Thr
XM_006719272.4:c.4475A>C	XP_006719335.1:p.Lys1492Thr
XR_944505.3:n.4606A>C
NM_152641.4:c.4475A>C MANE Select	NP_689854.2:p.Lys1492Thr
NM_001347839.2:c.4475A>C	NP_001334768.1:p.Lys1492Thr