Canonical Allele Identifier: CA2495877412
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47482957_47482960delinsCAGT , CM000664.2:g.47482957_47482960delinsCAGT GRCh38
NC_000002.11:g.47710096_47710099delinsCAGT , CM000664.1:g.47710096_47710099delinsCAGT GRCh37
NC_000002.10:g.47563600_47563603delinsCAGT NCBI36
NG_007110.2:g.84834_84837delinsCAGT , LRG_218:g.84834_84837delinsCAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2634+2086_2634+2089delinsCAGT ENSP00000495641.2:n.2634+2086_2634+2089delinsCAGT
ENST00000233146.7:c.*8_*11delinsCAGT MANE Select ENSP00000233146.2:n.*8_*11delinsCAGT
ENST00000543555.6:c.*8_*11delinsCAGT ENSP00000442697.1:n.*8_*11delinsCAGT
ENST00000644092.1:c.*934+2086_*934+2089delinsCAGT ENSP00000496351.1:n.*934+2086_*934+2089delinsCAGT
ENST00000644900.1:c.487+2086_487+2089delinsCAGT
ENST00000645339.1:c.2634+2086_2634+2089delinsCAGT ENSP00000496441.1:n.2634+2086_2634+2089delinsCAGT
ENST00000645506.1:c.2634+2086_2634+2089delinsCAGT ENSP00000495455.1:n.2634+2086_2634+2089delinsCAGT
ENST00000646415.1:c.2634+2086_2634+2089delinsCAGT ENSP00000495543.1:n.2634+2086_2634+2089delinsCAGT
ENST00000233146.6:c.*8_*11delinsCAGT ENSP00000233146.2:n.*8_*11delinsCAGT
ENST00000406134.5:c.2634+2086_2634+2089delinsCAGT ENSP00000384199.1:n.2634+2086_2634+2089delinsCAGT
ENST00000461394.5:n.75+2086_75+2089delinsCAGT
ENST00000543555.5:c.*8_*11delinsCAGT ENSP00000442697.1:n.*8_*11delinsCAGT
ENST00000610696.4:c.*1209_*1212delinsCAGT ENSP00000483159.1:n.*1209_*1212delinsCAGT
ENST00000613514.4:c.*1353_*1356delinsCAGT ENSP00000484137.1:n.*1353_*1356delinsCAGT
ENST00000617333.3:c.*1579_*1582delinsCAGT ENSP00000482468.1:n.*1579_*1582delinsCAGT
ENST00000617938.4:c.*1785_*1788delinsCAGT ENSP00000481158.1:n.*1785_*1788delinsCAGT
ENST00000621359.2:c.*379_*382delinsCAGT ENSP00000481416.1:n.*379_*382delinsCAGT
NM_000251.2:c.*8_*11delinsCAGT , LRG_218t1:c.*8_*11delinsCAGT NP_000242.1:n.*8_*11delinsCAGT
NM_001258281.1:c.*8_*11delinsCAGT NP_001245210.1:n.*8_*11delinsCAGT
XM_005264332.2:c.2634+2086_2634+2089delinsCAGT XP_005264389.2:n.2634+2086_2634+2089delinsCAGT
XM_011532867.1:c.2634+2086_2634+2089delinsCAGT XP_011531169.1:n.2634+2086_2634+2089delinsCAGT
XR_939685.1:n.2706+2086_2706+2089delinsCAGT
XM_005264332.4:c.2634+2086_2634+2089delinsCAGT XP_005264389.2:n.2634+2086_2634+2089delinsCAGT
XM_011532867.2:c.2634+2086_2634+2089delinsCAGT XP_011531169.1:n.2634+2086_2634+2089delinsCAGT
XR_001738747.2:n.2696+2086_2696+2089delinsCAGT
XR_939685.2:n.2696+2086_2696+2089delinsCAGT
NM_000251.3:c.*8_*11delinsCAGT MANE Select NP_000242.1:n.*8_*11delinsCAGT