Canonical Allele Identifier: CA2699074142
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs63750408

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47410134_47410135del , CM000664.2:g.47410134_47410135del GRCh38
NC_000002.11:g.47637273_47637274del , CM000664.1:g.47637273_47637274del GRCh37
NC_000002.10:g.47490777_47490778del NCBI36
NG_007110.2:g.12011_12012del , LRG_218:g.12011_12012del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.407_408del ENSP00000495641.2:p.Phe136TrpfsTer2
ENST00000233146.7:c.407_408del MANE Select ENSP00000233146.2:p.Phe136TrpfsTer2
ENST00000543555.6:c.209_210del ENSP00000442697.1:p.Phe70TrpfsTer2
ENST00000644092.1:c.407_408del ENSP00000496351.1:p.Phe136TrpfsTer2
ENST00000645339.1:c.407_408del ENSP00000496441.1:p.Phe136TrpfsTer2
ENST00000645506.1:c.407_408del ENSP00000495455.1:p.Phe136TrpfsTer2
ENST00000646415.1:c.407_408del ENSP00000495543.1:p.Phe136TrpfsTer2
ENST00000233146.6:c.407_408del ENSP00000233146.2:p.Phe136TrpfsTer2
ENST00000406134.5:c.407_408del ENSP00000384199.1:p.Phe136TrpfsTer2
ENST00000454849.5:c.209_210del ENSP00000411482.1:p.Phe70TrpfsTer2
ENST00000543555.5:c.209_210del ENSP00000442697.1:p.Phe70TrpfsTer2
ENST00000610696.4:c.407_408del ENSP00000483159.1:p.Phe136TrpfsTer2
ENST00000613514.4:c.407_408del ENSP00000484137.1:p.Phe136TrpfsTer2
ENST00000617333.3:c.407_408del ENSP00000482468.1:p.Phe136TrpfsTer2
ENST00000617938.4:c.407_408del ENSP00000481158.1:p.Phe136TrpfsTer2
ENST00000621359.2:c.407_408del ENSP00000481416.1:p.Phe136TrpfsTer2
NM_000251.2:c.407_408del , LRG_218t1:c.407_408del NP_000242.1:p.Phe136TrpfsTer2
NM_001258281.1:c.209_210del NP_001245210.1:p.Phe70TrpfsTer2
XM_005264332.2:c.407_408del XP_005264389.2:p.Phe136TrpfsTer2
XM_011532867.1:c.407_408del XP_011531169.1:p.Phe136TrpfsTer2
XR_939685.1:n.479_480del
XM_005264332.4:c.407_408del XP_005264389.2:p.Phe136TrpfsTer2
XM_011532867.2:c.407_408del XP_011531169.1:p.Phe136TrpfsTer2
XR_001738747.2:n.469_470del
XR_939685.2:n.469_470del
NM_000251.3:c.407_408del MANE Select NP_000242.1:p.Phe136TrpfsTer2