Canonical Allele Identifier: CA2582342367
Gene: MSH2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47466713del , CM000664.2:g.47466713del GRCh38
NC_000002.11:g.47693852del , CM000664.1:g.47693852del GRCh37
NC_000002.10:g.47547356del NCBI36
NG_007110.2:g.68590del , LRG_218:g.68590del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1566del ENSP00000495641.2:p.Arg524ValfsTer2
ENST00000233146.7:c.1566del MANE Select ENSP00000233146.2:p.Arg524ValfsTer2
ENST00000543555.6:c.1368del ENSP00000442697.1:p.Arg458ValfsTer2
ENST00000644092.1:c.1566del ENSP00000496351.1:p.Arg524ValfsTer2
ENST00000645339.1:c.1566del ENSP00000496441.1:p.Arg524ValfsTer2
ENST00000645506.1:c.1566del ENSP00000495455.1:p.Arg524ValfsTer2
ENST00000646415.1:c.1566del ENSP00000495543.1:p.Arg524ValfsTer2
ENST00000233146.6:c.1566del ENSP00000233146.2:p.Arg524ValfsTer2
ENST00000406134.5:c.1566del ENSP00000384199.1:p.Arg524ValfsTer2
ENST00000543555.5:c.1368del ENSP00000442697.1:p.Arg458ValfsTer2
ENST00000610696.4:c.1566del ENSP00000483159.1:p.Arg524ValfsTer2
ENST00000613514.4:c.*106del ENSP00000484137.1:n.*106del
ENST00000617333.3:c.*332del ENSP00000482468.1:n.*332del
ENST00000617938.4:c.*538del ENSP00000481158.1:n.*538del
ENST00000621359.2:c.1566del ENSP00000481416.1:p.Arg524ValfsTer2
NM_000251.2:c.1566del , LRG_218t1:c.1566del NP_000242.1:p.Arg524ValfsTer2
NM_001258281.1:c.1368del NP_001245210.1:p.Arg458ValfsTer2
XM_005264332.2:c.1566del XP_005264389.2:p.Arg524ValfsTer2
XM_011532867.1:c.1566del XP_011531169.1:p.Arg524ValfsTer2
XR_939685.1:n.1638del
XM_005264332.4:c.1566del XP_005264389.2:p.Arg524ValfsTer2
XM_011532867.2:c.1566del XP_011531169.1:p.Arg524ValfsTer2
XR_001738747.2:n.1628del
XR_939685.2:n.1628del
NM_000251.3:c.1566del MANE Select NP_000242.1:p.Arg524ValfsTer2