Canonical Allele Identifier: CA384491224

Gene: ARID2

Linked Data

• gnomAD v4: 12-45852470-T-G
• MyVariant Identifiers: chr12:g.46246253T>G (hg19) ; chr12:g.45852470T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852470T>G , CM000674.2:g.45852470T>G	GRCh38
NC_000012.11:g.46246253T>G , CM000674.1:g.46246253T>G	GRCh37
NC_000012.10:g.44532520T>G	NCBI36
NG_052800.1:g.127806T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4347T>G	ENSP00000415650.3:p.Asn1449Lys
ENST00000457135.2:c.556T>G
ENST00000334344.11:c.4347T>G MANE Select	ENSP00000335044.6:p.Asn1449Lys
ENST00000422737.6:c.4268T>G
ENST00000334344.10:c.4347T>G	ENSP00000335044.6:p.Asn1449Lys
ENST00000422737.5:c.3900T>G	ENSP00000415650.1:p.Asn1300Lys
ENST00000444670.5:c.3177T>G	ENSP00000397307.1:p.Asn1059Lys
ENST00000457135.1:c.171T>G	ENSP00000388357.1:p.Asn57Lys
ENST00000479608.5:n.3638T>G
NM_152641.2:c.4347T>G	NP_689854.2:p.Asn1449Lys
XM_006719272.2:c.4347T>G	XP_006719335.1:p.Asn1449Lys
XM_011538025.1:c.2715T>G	XP_011536327.1:p.Asn905Lys
XR_944505.1:n.4495T>G
NM_001347839.1:c.4347T>G	NP_001334768.1:p.Asn1449Lys
NM_152641.3:c.4347T>G	NP_689854.2:p.Asn1449Lys
XM_006719272.4:c.4347T>G	XP_006719335.1:p.Asn1449Lys
XR_944505.3:n.4478T>G
NM_152641.4:c.4347T>G MANE Select	NP_689854.2:p.Asn1449Lys
NM_001347839.2:c.4347T>G	NP_001334768.1:p.Asn1449Lys