Canonical Allele Identifier: CA2495873644
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476460_47476461delinsCA , CM000664.2:g.47476460_47476461delinsCA GRCh38
NC_000002.11:g.47703599_47703600delinsCA , CM000664.1:g.47703599_47703600delinsCA GRCh37
NC_000002.10:g.47557103_47557104delinsCA NCBI36
NG_007110.2:g.78337_78338delinsCA , LRG_218:g.78337_78338delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2099_2100delinsCA ENSP00000495641.2:p.Ala700=
ENST00000233146.7:c.2099_2100delinsCA MANE Select ENSP00000233146.2:p.Ala700=
ENST00000543555.6:c.1901_1902delinsCA ENSP00000442697.1:p.Ala634=
ENST00000644092.1:c.*399_*400delinsCA ENSP00000496351.1:n.*399_*400delinsCA
ENST00000645339.1:c.2099_2100delinsCA ENSP00000496441.1:p.Ala700=
ENST00000645506.1:c.2099_2100delinsCA ENSP00000495455.1:p.Ala700=
ENST00000646415.1:c.2099_2100delinsCA ENSP00000495543.1:p.Ala700=
ENST00000233146.6:c.2099_2100delinsCA ENSP00000233146.2:p.Ala700=
ENST00000406134.5:c.2099_2100delinsCA ENSP00000384199.1:p.Ala700=
ENST00000543555.5:c.1901_1902delinsCA ENSP00000442697.1:p.Ala634=
ENST00000610696.4:c.*495_*496delinsCA ENSP00000483159.1:n.*495_*496delinsCA
ENST00000613514.4:c.*639_*640delinsCA ENSP00000484137.1:n.*639_*640delinsCA
ENST00000617333.3:c.*865_*866delinsCA ENSP00000482468.1:n.*865_*866delinsCA
ENST00000617938.4:c.*1071_*1072delinsCA ENSP00000481158.1:n.*1071_*1072delinsCA
ENST00000621359.2:c.2099_2100delinsCA ENSP00000481416.1:p.Ala700=
NM_000251.2:c.2099_2100delinsCA , LRG_218t1:c.2099_2100delinsCA NP_000242.1:p.Ala700=
NM_001258281.1:c.1901_1902delinsCA NP_001245210.1:p.Ala634=
XM_005264332.2:c.2099_2100delinsCA XP_005264389.2:p.Ala700=
XM_011532867.1:c.2099_2100delinsCA XP_011531169.1:p.Ala700=
XR_939685.1:n.2171_2172delinsCA
XM_005264332.4:c.2099_2100delinsCA XP_005264389.2:p.Ala700=
XM_011532867.2:c.2099_2100delinsCA XP_011531169.1:p.Ala700=
XR_001738747.2:n.2161_2162delinsCA
XR_939685.2:n.2161_2162delinsCA
NM_000251.3:c.2099_2100delinsCA MANE Select NP_000242.1:p.Ala700=