Canonical Allele Identifier: CA384492277

Gene: ARID2

Linked Data

• dbSNP Id: rs2138181546
• gnomAD v4: 12-45852802-C-T
• MyVariant Identifiers: chr12:g.46246585C>T (hg19) ; chr12:g.45852802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852802C>T , CM000674.2:g.45852802C>T	GRCh38
NC_000012.11:g.46246585C>T , CM000674.1:g.46246585C>T	GRCh37
NC_000012.10:g.44532852C>T	NCBI36
NG_052800.1:g.128138C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4679C>T	ENSP00000415650.3:p.Ala1560Val
ENST00000457135.2:c.888C>T
ENST00000334344.11:c.4679C>T MANE Select	ENSP00000335044.6:p.Ala1560Val
ENST00000422737.6:c.4600C>T
ENST00000334344.10:c.4679C>T	ENSP00000335044.6:p.Ala1560Val
ENST00000422737.5:c.4232C>T	ENSP00000415650.1:p.Ala1411Val
ENST00000444670.5:c.3509C>T	ENSP00000397307.1:p.Ala1170Val
ENST00000457135.1:c.503C>T	ENSP00000388357.1:p.Ala168Val
ENST00000479608.5:n.3970C>T
NM_152641.2:c.4679C>T	NP_689854.2:p.Ala1560Val
XM_006719272.2:c.4679C>T	XP_006719335.1:p.Ala1560Val
XM_011538025.1:c.3047C>T	XP_011536327.1:p.Ala1016Val
XR_944505.1:n.4827C>T
NM_001347839.1:c.4679C>T	NP_001334768.1:p.Ala1560Val
NM_152641.3:c.4679C>T	NP_689854.2:p.Ala1560Val
XM_006719272.4:c.4679C>T	XP_006719335.1:p.Ala1560Val
XR_944505.3:n.4810C>T
NM_152641.4:c.4679C>T MANE Select	NP_689854.2:p.Ala1560Val
NM_001347839.2:c.4679C>T	NP_001334768.1:p.Ala1560Val