Canonical Allele Identifier: CA2658948074
Gene: MSH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475113_47475130del , CM000664.2:g.47475113_47475130del GRCh38
NC_000002.11:g.47702252_47702269del , CM000664.1:g.47702252_47702269del GRCh37
NC_000002.10:g.47555756_47555773del NCBI36
NG_007110.2:g.76990_77007del , LRG_218:g.76990_77007del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1848_1865del ENSP00000495641.2:p.Val617_Pro622del
ENST00000233146.7:c.1848_1865del MANE Select ENSP00000233146.2:p.Val617_Pro622del
ENST00000543555.6:c.1650_1667del ENSP00000442697.1:p.Val551_Pro556del
ENST00000644092.1:c.*148_*165del ENSP00000496351.1:n.*148_*165del
ENST00000645339.1:c.1848_1865del ENSP00000496441.1:p.Val617_Pro622del
ENST00000645506.1:c.1848_1865del ENSP00000495455.1:p.Val617_Pro622del
ENST00000646415.1:c.1848_1865del ENSP00000495543.1:p.Val617_Pro622del
ENST00000233146.6:c.1848_1865del ENSP00000233146.2:p.Val617_Pro622del
ENST00000406134.5:c.1848_1865del ENSP00000384199.1:p.Val617_Pro622del
ENST00000543555.5:c.1650_1667del ENSP00000442697.1:p.Val551_Pro556del
ENST00000610696.4:c.*244_*261del ENSP00000483159.1:n.*244_*261del
ENST00000613514.4:c.*388_*405del ENSP00000484137.1:n.*388_*405del
ENST00000617333.3:c.*614_*631del ENSP00000482468.1:n.*614_*631del
ENST00000617938.4:c.*820_*837del ENSP00000481158.1:n.*820_*837del
ENST00000621359.2:c.1848_1865del ENSP00000481416.1:p.Val617_Pro622del
NM_000251.2:c.1848_1865del , LRG_218t1:c.1848_1865del NP_000242.1:p.Val617_Pro622del
NM_001258281.1:c.1650_1667del NP_001245210.1:p.Val551_Pro556del
XM_005264332.2:c.1848_1865del XP_005264389.2:p.Val617_Pro622del
XM_011532867.1:c.1848_1865del XP_011531169.1:p.Val617_Pro622del
XR_939685.1:n.1920_1937del
XM_005264332.4:c.1848_1865del XP_005264389.2:p.Val617_Pro622del
XM_011532867.2:c.1848_1865del XP_011531169.1:p.Val617_Pro622del
XR_001738747.2:n.1910_1927del
XR_939685.2:n.1910_1927del
NM_000251.3:c.1848_1865del MANE Select NP_000242.1:p.Val617_Pro622del