Canonical Allele Identifier: CA2759533390
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475224_47475225insC , CM000664.2:g.47475224_47475225insC GRCh38
NC_000002.11:g.47702363_47702364insC , CM000664.1:g.47702363_47702364insC GRCh37
NC_000002.10:g.47555867_47555868insC NCBI36
NG_007110.2:g.77101_77102insC , LRG_218:g.77101_77102insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1959_1960insC ENSP00000495641.2:p.Asp654ArgfsTer5
ENST00000233146.7:c.1959_1960insC MANE Select ENSP00000233146.2:p.Asp654ArgfsTer5
ENST00000543555.6:c.1761_1762insC ENSP00000442697.1:p.Asp588ArgfsTer5
ENST00000644092.1:c.*259_*260insC ENSP00000496351.1:n.*259_*260insC
ENST00000645339.1:c.1959_1960insC ENSP00000496441.1:p.Asp654ArgfsTer5
ENST00000645506.1:c.1959_1960insC ENSP00000495455.1:p.Asp654ArgfsTer5
ENST00000646415.1:c.1959_1960insC ENSP00000495543.1:p.Asp654ArgfsTer5
ENST00000233146.6:c.1959_1960insC ENSP00000233146.2:p.Asp654ArgfsTer5
ENST00000406134.5:c.1959_1960insC ENSP00000384199.1:p.Asp654ArgfsTer5
ENST00000543555.5:c.1761_1762insC ENSP00000442697.1:p.Asp588ArgfsTer5
ENST00000610696.4:c.*355_*356insC ENSP00000483159.1:n.*355_*356insC
ENST00000613514.4:c.*499_*500insC ENSP00000484137.1:n.*499_*500insC
ENST00000617333.3:c.*725_*726insC ENSP00000482468.1:n.*725_*726insC
ENST00000617938.4:c.*931_*932insC ENSP00000481158.1:n.*931_*932insC
ENST00000621359.2:c.1959_1960insC ENSP00000481416.1:p.Asp654ArgfsTer5
NM_000251.2:c.1959_1960insC , LRG_218t1:c.1959_1960insC NP_000242.1:p.Asp654ArgfsTer5
NM_001258281.1:c.1761_1762insC NP_001245210.1:p.Asp588ArgfsTer5
XM_005264332.2:c.1959_1960insC XP_005264389.2:p.Asp654ArgfsTer5
XM_011532867.1:c.1959_1960insC XP_011531169.1:p.Asp654ArgfsTer5
XR_939685.1:n.2031_2032insC
XM_005264332.4:c.1959_1960insC XP_005264389.2:p.Asp654ArgfsTer5
XM_011532867.2:c.1959_1960insC XP_011531169.1:p.Asp654ArgfsTer5
XR_001738747.2:n.2021_2022insC
XR_939685.2:n.2021_2022insC
NM_000251.3:c.1959_1960insC MANE Select NP_000242.1:p.Asp654ArgfsTer5