Canonical Allele Identifier: CA384492190

Gene: ARID2

Linked Data

• dbSNP Id: rs1400482082
• gnomAD v2: 12-46246564-T-A
• gnomAD v3: 12-45852781-T-A
• gnomAD v4: 12-45852781-T-A
• MyVariant Identifiers: chr12:g.46246564T>A (hg19) ; chr12:g.45852781T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852781T>A , CM000674.2:g.45852781T>A	GRCh38
NC_000012.11:g.46246564T>A , CM000674.1:g.46246564T>A	GRCh37
NC_000012.10:g.44532831T>A	NCBI36
NG_052800.1:g.128117T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4658T>A	ENSP00000415650.3:p.Met1553Lys
ENST00000457135.2:c.867T>A
ENST00000334344.11:c.4658T>A MANE Select	ENSP00000335044.6:p.Met1553Lys
ENST00000422737.6:c.4579T>A
ENST00000334344.10:c.4658T>A	ENSP00000335044.6:p.Met1553Lys
ENST00000422737.5:c.4211T>A	ENSP00000415650.1:p.Met1404Lys
ENST00000444670.5:c.3488T>A	ENSP00000397307.1:p.Met1163Lys
ENST00000457135.1:c.482T>A	ENSP00000388357.1:p.Met161Lys
ENST00000479608.5:n.3949T>A
NM_152641.2:c.4658T>A	NP_689854.2:p.Met1553Lys
XM_006719272.2:c.4658T>A	XP_006719335.1:p.Met1553Lys
XM_011538025.1:c.3026T>A	XP_011536327.1:p.Met1009Lys
XR_944505.1:n.4806T>A
NM_001347839.1:c.4658T>A	NP_001334768.1:p.Met1553Lys
NM_152641.3:c.4658T>A	NP_689854.2:p.Met1553Lys
XM_006719272.4:c.4658T>A	XP_006719335.1:p.Met1553Lys
XR_944505.3:n.4789T>A
NM_152641.4:c.4658T>A MANE Select	NP_689854.2:p.Met1553Lys
NM_001347839.2:c.4658T>A	NP_001334768.1:p.Met1553Lys