Canonical Allele Identifier: CA1139662607
Gene: ARID2 HGNC NCBI

Linked Data

ClinVar Variation Id: 931731
ClinVar RCV Id: RCV001198606
dbSNP Id: rs1943579551

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.45852763_45852782del , CM000674.2:g.45852763_45852782del GRCh38
NC_000012.11:g.46246546_46246565del , CM000674.1:g.46246546_46246565del GRCh37
NC_000012.10:g.44532813_44532832del NCBI36
NG_052800.1:g.128099_128118del

Transcript Alleles

HGVS Amino-acid Change
ENST00000422737.7:c.4640_4659del ENSP00000415650.3:p.Ala1547GlyfsTer14
ENST00000457135.2:c.849_868del
ENST00000334344.11:c.4640_4659del MANE Select ENSP00000335044.6:p.Ala1547GlyfsTer14
ENST00000422737.6:c.4561_4580del
ENST00000334344.10:c.4640_4659del ENSP00000335044.6:p.Ala1547GlyfsTer14
ENST00000422737.5:c.4193_4212del ENSP00000415650.1:p.Ala1398GlyfsTer14
ENST00000444670.5:c.3470_3489del ENSP00000397307.1:p.Ala1157GlyfsTer14
ENST00000457135.1:c.464_483del ENSP00000388357.1:p.Ala155GlyfsTer14
ENST00000479608.5:n.3931_3950del
NM_152641.2:c.4640_4659del NP_689854.2:p.Ala1547GlyfsTer14
XM_006719272.2:c.4640_4659del XP_006719335.1:p.Ala1547GlyfsTer14
XM_011538025.1:c.3008_3027del XP_011536327.1:p.Ala1003GlyfsTer14
XR_944505.1:n.4788_4807del
NM_001347839.1:c.4640_4659del NP_001334768.1:p.Ala1547GlyfsTer14
NM_152641.3:c.4640_4659del NP_689854.2:p.Ala1547GlyfsTer14
XM_006719272.4:c.4640_4659del XP_006719335.1:p.Ala1547GlyfsTer14
XR_944505.3:n.4771_4790del
NM_152641.4:c.4640_4659del MANE Select NP_689854.2:p.Ala1547GlyfsTer14
NM_001347839.2:c.4640_4659del NP_001334768.1:p.Ala1547GlyfsTer14