Canonical Allele Identifier: CA2495872401
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475055_47475060delinsATGTGT , CM000664.2:g.47475055_47475060delinsATGTGT GRCh38
NC_000002.11:g.47702194_47702199delinsATGTGT , CM000664.1:g.47702194_47702199delinsATGTGT GRCh37
NC_000002.10:g.47555698_47555703delinsATGTGT NCBI36
NG_007110.2:g.76932_76937delinsATGTGT , LRG_218:g.76932_76937delinsATGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1790_1795delinsATGTGT ENSP00000495641.2:p.Asp597=
ENST00000233146.7:c.1790_1795delinsATGTGT MANE Select ENSP00000233146.2:p.Asp597=
ENST00000543555.6:c.1592_1597delinsATGTGT ENSP00000442697.1:p.Asp531=
ENST00000644092.1:c.*90_*95delinsATGTGT ENSP00000496351.1:n.*90_*95delinsATGTGT
ENST00000645339.1:c.1790_1795delinsATGTGT ENSP00000496441.1:p.Asp597=
ENST00000645506.1:c.1790_1795delinsATGTGT ENSP00000495455.1:p.Asp597=
ENST00000646415.1:c.1790_1795delinsATGTGT ENSP00000495543.1:p.Asp597=
ENST00000233146.6:c.1790_1795delinsATGTGT ENSP00000233146.2:p.Asp597=
ENST00000406134.5:c.1790_1795delinsATGTGT ENSP00000384199.1:p.Asp597=
ENST00000543555.5:c.1592_1597delinsATGTGT ENSP00000442697.1:p.Asp531=
ENST00000610696.4:c.*186_*191delinsATGTGT ENSP00000483159.1:n.*186_*191delinsATGTGT
ENST00000613514.4:c.*330_*335delinsATGTGT ENSP00000484137.1:n.*330_*335delinsATGTGT
ENST00000617333.3:c.*556_*561delinsATGTGT ENSP00000482468.1:n.*556_*561delinsATGTGT
ENST00000617938.4:c.*762_*767delinsATGTGT ENSP00000481158.1:n.*762_*767delinsATGTGT
ENST00000621359.2:c.1790_1795delinsATGTGT ENSP00000481416.1:p.Asp597=
NM_000251.2:c.1790_1795delinsATGTGT , LRG_218t1:c.1790_1795delinsATGTGT NP_000242.1:p.Asp597=
NM_001258281.1:c.1592_1597delinsATGTGT NP_001245210.1:p.Asp531=
XM_005264332.2:c.1790_1795delinsATGTGT XP_005264389.2:p.Asp597=
XM_011532867.1:c.1790_1795delinsATGTGT XP_011531169.1:p.Asp597=
XR_939685.1:n.1862_1867delinsATGTGT
XM_005264332.4:c.1790_1795delinsATGTGT XP_005264389.2:p.Asp597=
XM_011532867.2:c.1790_1795delinsATGTGT XP_011531169.1:p.Asp597=
XR_001738747.2:n.1852_1857delinsATGTGT
XR_939685.2:n.1852_1857delinsATGTGT
NM_000251.3:c.1790_1795delinsATGTGT MANE Select NP_000242.1:p.Asp597=