Canonical Allele Identifier: CA2580067062
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1782927
ClinVar RCV Id: RCV002410960

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475199_47475209del , CM000664.2:g.47475199_47475209del GRCh38
NC_000002.11:g.47702338_47702348del , CM000664.1:g.47702338_47702348del GRCh37
NC_000002.10:g.47555842_47555852del NCBI36
NG_007110.2:g.77076_77086del , LRG_218:g.77076_77086del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1934_1944del ENSP00000495641.2:p.Gln645ArgfsTer5
ENST00000233146.7:c.1934_1944del MANE Select ENSP00000233146.2:p.Gln645ArgfsTer5
ENST00000543555.6:c.1736_1746del ENSP00000442697.1:p.Gln579ArgfsTer5
ENST00000644092.1:c.*234_*244del ENSP00000496351.1:n.*234_*244del
ENST00000645339.1:c.1934_1944del ENSP00000496441.1:p.Gln645ArgfsTer5
ENST00000645506.1:c.1934_1944del ENSP00000495455.1:p.Gln645ArgfsTer5
ENST00000646415.1:c.1934_1944del ENSP00000495543.1:p.Gln645ArgfsTer5
ENST00000233146.6:c.1934_1944del ENSP00000233146.2:p.Gln645ArgfsTer5
ENST00000406134.5:c.1934_1944del ENSP00000384199.1:p.Gln645ArgfsTer5
ENST00000543555.5:c.1736_1746del ENSP00000442697.1:p.Gln579ArgfsTer5
ENST00000610696.4:c.*330_*340del ENSP00000483159.1:n.*330_*340del
ENST00000613514.4:c.*474_*484del ENSP00000484137.1:n.*474_*484del
ENST00000617333.3:c.*700_*710del ENSP00000482468.1:n.*700_*710del
ENST00000617938.4:c.*906_*916del ENSP00000481158.1:n.*906_*916del
ENST00000621359.2:c.1934_1944del ENSP00000481416.1:p.Gln645ArgfsTer5
NM_000251.2:c.1934_1944del , LRG_218t1:c.1934_1944del NP_000242.1:p.Gln645ArgfsTer5
NM_001258281.1:c.1736_1746del NP_001245210.1:p.Gln579ArgfsTer5
XM_005264332.2:c.1934_1944del XP_005264389.2:p.Gln645ArgfsTer5
XM_011532867.1:c.1934_1944del XP_011531169.1:p.Gln645ArgfsTer5
XR_939685.1:n.2006_2016del
XM_005264332.4:c.1934_1944del XP_005264389.2:p.Gln645ArgfsTer5
XM_011532867.2:c.1934_1944del XP_011531169.1:p.Gln645ArgfsTer5
XR_001738747.2:n.1996_2006del
XR_939685.2:n.1996_2006del
NM_000251.3:c.1934_1944del MANE Select NP_000242.1:p.Gln645ArgfsTer5