Canonical Allele Identifier: CA156958

Gene: ARID2

Linked Data

• ClinVar Variation Id: 133565
• ClinVar RCV Id: RCV000120078 ; RCV000901690 ; RCV003945065
• dbSNP Id: rs140500006
• ExAC: 12:46246416 C / T
• gnomAD v2: 12-46246416-C-T
• gnomAD v3: 12-45852633-C-T
• gnomAD v4: 12-45852633-C-T
• COSMIC: COSM1183569
• MyVariant Identifiers: chr12:g.46246416C>T (hg19) ; chr12:g.45852633C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852633C>T , CM000674.2:g.45852633C>T	GRCh38
NC_000012.11:g.46246416C>T , CM000674.1:g.46246416C>T	GRCh37
NC_000012.10:g.44532683C>T	NCBI36
NG_052800.1:g.127969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4510C>T	ENSP00000415650.3:p.Arg1504Trp
ENST00000457135.2:c.719C>T
ENST00000334344.11:c.4510C>T MANE Select	ENSP00000335044.6:p.Arg1504Trp
ENST00000422737.6:c.4431C>T
ENST00000334344.10:c.4510C>T	ENSP00000335044.6:p.Arg1504Trp
ENST00000422737.5:c.4063C>T	ENSP00000415650.1:p.Arg1355Trp
ENST00000444670.5:c.3340C>T	ENSP00000397307.1:p.Arg1114Trp
ENST00000457135.1:c.334C>T	ENSP00000388357.1:p.Arg112Trp
ENST00000479608.5:n.3801C>T
NM_152641.2:c.4510C>T	NP_689854.2:p.Arg1504Trp
XM_006719272.2:c.4510C>T	XP_006719335.1:p.Arg1504Trp
XM_011538025.1:c.2878C>T	XP_011536327.1:p.Arg960Trp
XR_944505.1:n.4658C>T
NM_001347839.1:c.4510C>T	NP_001334768.1:p.Arg1504Trp
NM_152641.3:c.4510C>T	NP_689854.2:p.Arg1504Trp
XM_006719272.4:c.4510C>T	XP_006719335.1:p.Arg1504Trp
XR_944505.3:n.4641C>T
NM_152641.4:c.4510C>T MANE Select	NP_689854.2:p.Arg1504Trp
NM_001347839.2:c.4510C>T	NP_001334768.1:p.Arg1504Trp