Canonical Allele Identifier: CA2580067188
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1786244
ClinVar RCV Id: RCV002417621

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476482_47476486del , CM000664.2:g.47476482_47476486del GRCh38
NC_000002.11:g.47703621_47703625del , CM000664.1:g.47703621_47703625del GRCh37
NC_000002.10:g.47557125_47557129del NCBI36
NG_007110.2:g.78359_78363del , LRG_218:g.78359_78363del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2121_2125del ENSP00000495641.2:p.Ile708SerfsTer7
ENST00000233146.7:c.2121_2125del MANE Select ENSP00000233146.2:p.Ile708SerfsTer7
ENST00000543555.6:c.1923_1927del ENSP00000442697.1:p.Ile642SerfsTer7
ENST00000644092.1:c.*421_*425del ENSP00000496351.1:n.*421_*425del
ENST00000645339.1:c.2121_2125del ENSP00000496441.1:p.Ile708SerfsTer7
ENST00000645506.1:c.2121_2125del ENSP00000495455.1:p.Ile708SerfsTer7
ENST00000646415.1:c.2121_2125del ENSP00000495543.1:p.Ile708SerfsTer7
ENST00000233146.6:c.2121_2125del ENSP00000233146.2:p.Ile708SerfsTer7
ENST00000406134.5:c.2121_2125del ENSP00000384199.1:p.Ile708SerfsTer7
ENST00000543555.5:c.1923_1927del ENSP00000442697.1:p.Ile642SerfsTer7
ENST00000610696.4:c.*517_*521del ENSP00000483159.1:n.*517_*521del
ENST00000613514.4:c.*661_*665del ENSP00000484137.1:n.*661_*665del
ENST00000617333.3:c.*887_*891del ENSP00000482468.1:n.*887_*891del
ENST00000617938.4:c.*1093_*1097del ENSP00000481158.1:n.*1093_*1097del
ENST00000621359.2:c.2121_2125del ENSP00000481416.1:p.Ile708SerfsTer7
NM_000251.2:c.2121_2125del , LRG_218t1:c.2121_2125del NP_000242.1:p.Ile708SerfsTer7
NM_001258281.1:c.1923_1927del NP_001245210.1:p.Ile642SerfsTer7
XM_005264332.2:c.2121_2125del XP_005264389.2:p.Ile708SerfsTer7
XM_011532867.1:c.2121_2125del XP_011531169.1:p.Ile708SerfsTer7
XR_939685.1:n.2193_2197del
XM_005264332.4:c.2121_2125del XP_005264389.2:p.Ile708SerfsTer7
XM_011532867.2:c.2121_2125del XP_011531169.1:p.Ile708SerfsTer7
XR_001738747.2:n.2183_2187del
XR_939685.2:n.2183_2187del
NM_000251.3:c.2121_2125del MANE Select NP_000242.1:p.Ile708SerfsTer7