Canonical Allele Identifier: CA020866
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91030
dbSNP Id: rs63750084

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47482791del , CM000664.2:g.47482791del GRCh38
NC_000002.11:g.47709930del , CM000664.1:g.47709930del GRCh37
NC_000002.10:g.47563434del NCBI36
NG_007110.2:g.84668del , LRG_218:g.84668del

Transcript Alleles

HGVS Amino-acid change
ENST00000233146.7:c.2647del MANE Select ENSP00000233146.2:p.Ile883LeufsTer9
ENST00000543555.6:c.2449del ENSP00000442697.1:p.Ile817LeufsTer9
ENST00000644092.1:c.*934+1920del ENSP00000496351.1:p.=
ENST00000644900.1:n.487+1920del
ENST00000645339.1:c.2634+1920del ENSP00000496441.1:p.=
ENST00000645506.1:c.2634+1920del ENSP00000495455.1:p.=
ENST00000646415.1:c.2634+1920del ENSP00000495543.1:p.=
ENST00000233146.6:c.2647del ENSP00000233146.2:p.Ile883LeufsTer9
ENST00000406134.5:c.2634+1920del ENSP00000384199.1:p.=
ENST00000461394.5:n.75+1920del
ENST00000543555.5:c.2449del ENSP00000442697.1:p.Ile817LeufsTer9
ENST00000610696.4:c.*1043del ENSP00000483159.1:p.=
ENST00000613514.4:c.*1187del ENSP00000484137.1:p.=
ENST00000617333.3:c.*1413del ENSP00000482468.1:p.=
ENST00000617938.4:c.*1619del ENSP00000481158.1:p.=
ENST00000621359.2:c.*213del ENSP00000481416.1:p.=
NM_000251.2:c.2647del , LRG_218t1:c.2647del NP_000242.1:p.Ile883LeufsTer9
NM_001258281.1:c.2449del NP_001245210.1:p.Ile817LeufsTer9
XM_005264332.2:c.2634+1920del XP_005264389.2:p.=
XM_011532867.1:c.2634+1920del XP_011531169.1:p.=
XR_939685.1:n.2706+1920del
XM_005264332.4:c.2634+1920del XP_005264389.2:p.=
XM_011532867.2:c.2634+1920del XP_011531169.1:p.=
XR_001738747.2:n.2696+1920del
XR_939685.2:n.2696+1920del
NM_000251.3:c.2647del MANE Select NP_000242.1:p.Ile883LeufsTer9