Canonical Allele Identifier: CA156962

Gene: ARID2

Linked Data

• ClinVar Variation Id: 133567
• ClinVar RCV Id: RCV000120080
• dbSNP Id: rs587778055
• gnomAD v3: 12-45851241-G-A
• gnomAD v4: 12-45851241-G-A
• MyVariant Identifiers: chr12:g.46245024G>A (hg19) ; chr12:g.45851241G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45851241G>A , CM000674.2:g.45851241G>A	GRCh38
NC_000012.11:g.46245024G>A , CM000674.1:g.46245024G>A	GRCh37
NC_000012.10:g.44531291G>A	NCBI36
NG_052800.1:g.126577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.3118G>A	ENSP00000415650.3:p.Val1040Ile
ENST00000334344.11:c.3118G>A MANE Select	ENSP00000335044.6:p.Val1040Ile
ENST00000422737.6:c.3039G>A
ENST00000334344.10:c.3118G>A	ENSP00000335044.6:p.Val1040Ile
ENST00000422737.5:c.2671G>A	ENSP00000415650.1:p.Val891Ile
ENST00000444670.5:c.1948G>A	ENSP00000397307.1:p.Val650Ile
ENST00000479608.5:n.2409G>A
NM_152641.2:c.3118G>A	NP_689854.2:p.Val1040Ile
XM_006719272.2:c.3118G>A	XP_006719335.1:p.Val1040Ile
XM_011538025.1:c.1486G>A	XP_011536327.1:p.Val496Ile
XR_944505.1:n.3266G>A
NM_001347839.1:c.3118G>A	NP_001334768.1:p.Val1040Ile
NM_152641.3:c.3118G>A	NP_689854.2:p.Val1040Ile
XM_006719272.4:c.3118G>A	XP_006719335.1:p.Val1040Ile
XR_944505.3:n.3249G>A
NM_152641.4:c.3118G>A MANE Select	NP_689854.2:p.Val1040Ile
NM_001347839.2:c.3118G>A	NP_001334768.1:p.Val1040Ile