Canonical Allele Identifier: CA2495877286
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47482785_47482786delinsGA , CM000664.2:g.47482785_47482786delinsGA GRCh38
NC_000002.11:g.47709924_47709925delinsGA , CM000664.1:g.47709924_47709925delinsGA GRCh37
NC_000002.10:g.47563428_47563429delinsGA NCBI36
NG_007110.2:g.84662_84663delinsGA , LRG_218:g.84662_84663delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000233146.7:c.2641_2642delinsGA MANE Select ENSP00000233146.2:p.Glu881=
ENST00000543555.6:c.2443_2444delinsGA ENSP00000442697.1:p.Glu815=
ENST00000644092.1:c.*934+1914_*934+1915delinsGA ENSP00000496351.1:p.=
ENST00000644900.1:n.487+1914_487+1915delinsGA
ENST00000645339.1:c.2634+1914_2634+1915delinsGA ENSP00000496441.1:p.=
ENST00000645506.1:c.2634+1914_2634+1915delinsGA ENSP00000495455.1:p.=
ENST00000646415.1:c.2634+1914_2634+1915delinsGA ENSP00000495543.1:p.=
ENST00000233146.6:c.2641_2642delinsGA ENSP00000233146.2:p.Glu881=
ENST00000406134.5:c.2634+1914_2634+1915delinsGA ENSP00000384199.1:p.=
ENST00000461394.5:n.75+1914_75+1915delinsGA
ENST00000543555.5:c.2443_2444delinsGA ENSP00000442697.1:p.Glu815=
ENST00000610696.4:c.*1037_*1038delinsGA ENSP00000483159.1:p.=
ENST00000613514.4:c.*1181_*1182delinsGA ENSP00000484137.1:p.=
ENST00000617333.3:c.*1407_*1408delinsGA ENSP00000482468.1:p.=
ENST00000617938.4:c.*1613_*1614delinsGA ENSP00000481158.1:p.=
ENST00000621359.2:c.*207_*208delinsGA ENSP00000481416.1:p.=
NM_000251.2:c.2641_2642delinsGA , LRG_218t1:c.2641_2642delinsGA NP_000242.1:p.Glu881=
NM_001258281.1:c.2443_2444delinsGA NP_001245210.1:p.Glu815=
XM_005264332.2:c.2634+1914_2634+1915delinsGA XP_005264389.2:p.=
XM_011532867.1:c.2634+1914_2634+1915delinsGA XP_011531169.1:p.=
XR_939685.1:n.2706+1914_2706+1915delinsGA
XM_005264332.4:c.2634+1914_2634+1915delinsGA XP_005264389.2:p.=
XM_011532867.2:c.2634+1914_2634+1915delinsGA XP_011531169.1:p.=
XR_001738747.2:n.2696+1914_2696+1915delinsGA
XR_939685.2:n.2696+1914_2696+1915delinsGA
NM_000251.3:c.2641_2642delinsGA MANE Select NP_000242.1:p.Glu881=