Canonical Allele Identifier: CA2580067272
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47480760_47480764dup , CM000664.2:g.47480760_47480764dup GRCh38
NC_000002.11:g.47707899_47707903dup , CM000664.1:g.47707899_47707903dup GRCh37
NC_000002.10:g.47561403_47561407dup NCBI36
NG_007110.2:g.82637_82641dup , LRG_218:g.82637_82641dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2523_2527dup ENSP00000495641.2:p.Cys843Ter
ENST00000233146.7:c.2523_2527dup MANE Select ENSP00000233146.2:p.Cys843Ter
ENST00000543555.6:c.2325_2329dup ENSP00000442697.1:p.Cys777Ter
ENST00000644092.1:c.*823_*827dup ENSP00000496351.1:n.*823_*827dup
ENST00000644900.1:c.376_380dup
ENST00000645339.1:c.2523_2527dup ENSP00000496441.1:p.Cys843Ter
ENST00000645506.1:c.2523_2527dup ENSP00000495455.1:p.Cys843Ter
ENST00000646415.1:c.2523_2527dup ENSP00000495543.1:p.Cys843Ter
ENST00000233146.6:c.2523_2527dup ENSP00000233146.2:p.Cys843Ter
ENST00000406134.5:c.2523_2527dup ENSP00000384199.1:p.Cys843Ter
ENST00000543555.5:c.2325_2329dup ENSP00000442697.1:p.Cys777Ter
ENST00000610696.4:c.*919_*923dup ENSP00000483159.1:n.*919_*923dup
ENST00000613514.4:c.*1063_*1067dup ENSP00000484137.1:n.*1063_*1067dup
ENST00000617333.3:c.*1289_*1293dup ENSP00000482468.1:n.*1289_*1293dup
ENST00000617938.4:c.*1495_*1499dup ENSP00000481158.1:n.*1495_*1499dup
ENST00000621359.2:c.*89_*93dup ENSP00000481416.1:n.*89_*93dup
NM_000251.2:c.2523_2527dup , LRG_218t1:c.2523_2527dup NP_000242.1:p.Cys843Ter
NM_001258281.1:c.2325_2329dup NP_001245210.1:p.Cys777Ter
XM_005264332.2:c.2523_2527dup XP_005264389.2:p.Cys843Ter
XM_011532867.1:c.2523_2527dup XP_011531169.1:p.Cys843Ter
XR_939685.1:n.2595_2599dup
XM_005264332.4:c.2523_2527dup XP_005264389.2:p.Cys843Ter
XM_011532867.2:c.2523_2527dup XP_011531169.1:p.Cys843Ter
XR_001738747.2:n.2585_2589dup
XR_939685.2:n.2585_2589dup
NM_000251.3:c.2523_2527dup MANE Select NP_000242.1:p.Cys843Ter