Canonical Allele Identifier: CA020149
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90911
ClinVar RCV Id: RCV000076413
dbSNP Id: rs63750722

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476521_47476524del , CM000664.2:g.47476521_47476524del GRCh38
NC_000002.11:g.47703660_47703663del , CM000664.1:g.47703660_47703663del GRCh37
NC_000002.10:g.47557164_47557167del NCBI36
NG_007110.2:g.78398_78401del , LRG_218:g.78398_78401del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.2160_2163del ENSP00000495641.2:p.Gly721SerfsTer23
ENST00000233146.7:c.2160_2163del MANE Select ENSP00000233146.2:p.Gly721SerfsTer23
ENST00000543555.6:c.1962_1965del ENSP00000442697.1:p.Gly655SerfsTer23
ENST00000644092.1:c.*460_*463del ENSP00000496351.1:n.*460_*463del
ENST00000644900.1:c.13_16del
ENST00000645339.1:c.2160_2163del ENSP00000496441.1:p.Gly721SerfsTer23
ENST00000645506.1:c.2160_2163del ENSP00000495455.1:p.Gly721SerfsTer23
ENST00000646415.1:c.2160_2163del ENSP00000495543.1:p.Gly721SerfsTer23
ENST00000233146.6:c.2160_2163del ENSP00000233146.2:p.Gly721SerfsTer23
ENST00000406134.5:c.2160_2163del ENSP00000384199.1:p.Gly721SerfsTer23
ENST00000543555.5:c.1962_1965del ENSP00000442697.1:p.Gly655SerfsTer23
ENST00000610696.4:c.*556_*559del ENSP00000483159.1:n.*556_*559del
ENST00000613514.4:c.*700_*703del ENSP00000484137.1:n.*700_*703del
ENST00000617333.3:c.*926_*929del ENSP00000482468.1:n.*926_*929del
ENST00000617938.4:c.*1132_*1135del ENSP00000481158.1:n.*1132_*1135del
ENST00000621359.2:c.2160_2163del ENSP00000481416.1:p.Gly721SerfsTer23
NM_000251.2:c.2160_2163del , LRG_218t1:c.2160_2163del NP_000242.1:p.Gly721SerfsTer23
NM_001258281.1:c.1962_1965del NP_001245210.1:p.Gly655SerfsTer23
XM_005264332.2:c.2160_2163del XP_005264389.2:p.Gly721SerfsTer23
XM_011532867.1:c.2160_2163del XP_011531169.1:p.Gly721SerfsTer23
XR_939685.1:n.2232_2235del
XM_005264332.4:c.2160_2163del XP_005264389.2:p.Gly721SerfsTer23
XM_011532867.2:c.2160_2163del XP_011531169.1:p.Gly721SerfsTer23
XR_001738747.2:n.2222_2225del
XR_939685.2:n.2222_2225del
NM_000251.3:c.2160_2163del MANE Select NP_000242.1:p.Gly721SerfsTer23