Canonical Allele Identifier: CA2580067005
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1790619
ClinVar RCV Id: RCV002450206

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47478457_47478458del , CM000664.2:g.47478457_47478458del GRCh38
NC_000002.11:g.47705596_47705597del , CM000664.1:g.47705596_47705597del GRCh37
NC_000002.10:g.47559100_47559101del NCBI36
NG_007110.2:g.80334_80335del , LRG_218:g.80334_80335del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2396_2397del ENSP00000495641.2:p.Asn799ThrfsTer9
ENST00000233146.7:c.2396_2397del MANE Select ENSP00000233146.2:p.Asn799ThrfsTer9
ENST00000543555.6:c.2198_2199del ENSP00000442697.1:p.Asn733ThrfsTer9
ENST00000644092.1:c.*696_*697del ENSP00000496351.1:n.*696_*697del
ENST00000644900.1:c.249_250del
ENST00000645339.1:c.2396_2397del ENSP00000496441.1:p.Asn799ThrfsTer9
ENST00000645506.1:c.2396_2397del ENSP00000495455.1:p.Asn799ThrfsTer9
ENST00000646415.1:c.2396_2397del ENSP00000495543.1:p.Asn799ThrfsTer9
ENST00000233146.6:c.2396_2397del ENSP00000233146.2:p.Asn799ThrfsTer9
ENST00000406134.5:c.2396_2397del ENSP00000384199.1:p.Asn799ThrfsTer9
ENST00000543555.5:c.2198_2199del ENSP00000442697.1:p.Asn733ThrfsTer9
ENST00000610696.4:c.*792_*793del ENSP00000483159.1:n.*792_*793del
ENST00000613514.4:c.*936_*937del ENSP00000484137.1:n.*936_*937del
ENST00000617333.3:c.*1162_*1163del ENSP00000482468.1:n.*1162_*1163del
ENST00000617938.4:c.*1368_*1369del ENSP00000481158.1:n.*1368_*1369del
ENST00000621359.2:c.2395_2396del ENSP00000481416.1:p.Ile799LeufsTer?
NM_000251.2:c.2396_2397del , LRG_218t1:c.2396_2397del NP_000242.1:p.Asn799ThrfsTer9
NM_001258281.1:c.2198_2199del NP_001245210.1:p.Asn733ThrfsTer9
XM_005264332.2:c.2396_2397del XP_005264389.2:p.Asn799ThrfsTer9
XM_011532867.1:c.2396_2397del XP_011531169.1:p.Asn799ThrfsTer9
XR_939685.1:n.2468_2469del
XM_005264332.4:c.2396_2397del XP_005264389.2:p.Asn799ThrfsTer9
XM_011532867.2:c.2396_2397del XP_011531169.1:p.Asn799ThrfsTer9
XR_001738747.2:n.2458_2459del
XR_939685.2:n.2458_2459del
NM_000251.3:c.2396_2397del MANE Select NP_000242.1:p.Asn799ThrfsTer9