Canonical Allele Identifier: CA019830
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90862
ClinVar RCV Id: RCV000076364
dbSNP Id: rs267608000

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476382_47476383del , CM000664.2:g.47476382_47476383del GRCh38
NC_000002.11:g.47703521_47703522del , CM000664.1:g.47703521_47703522del GRCh37
NC_000002.10:g.47557025_47557026del NCBI36
NG_007110.2:g.78259_78260del , LRG_218:g.78259_78260del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.2021_2022del ENSP00000495641.2:p.Gly674GlufsTer24
ENST00000233146.7:c.2021_2022del MANE Select ENSP00000233146.2:p.Gly674GlufsTer24
ENST00000543555.6:c.1823_1824del ENSP00000442697.1:p.Gly608GlufsTer24
ENST00000644092.1:c.*321_*322del ENSP00000496351.1:n.*321_*322del
ENST00000645339.1:c.2021_2022del ENSP00000496441.1:p.Gly674GlufsTer24
ENST00000645506.1:c.2021_2022del ENSP00000495455.1:p.Gly674GlufsTer24
ENST00000646415.1:c.2021_2022del ENSP00000495543.1:p.Gly674GlufsTer24
ENST00000233146.6:c.2021_2022del ENSP00000233146.2:p.Gly674GlufsTer24
ENST00000406134.5:c.2021_2022del ENSP00000384199.1:p.Gly674GlufsTer24
ENST00000543555.5:c.1823_1824del ENSP00000442697.1:p.Gly608GlufsTer24
ENST00000610696.4:c.*417_*418del ENSP00000483159.1:n.*417_*418del
ENST00000613514.4:c.*561_*562del ENSP00000484137.1:n.*561_*562del
ENST00000617333.3:c.*787_*788del ENSP00000482468.1:n.*787_*788del
ENST00000617938.4:c.*993_*994del ENSP00000481158.1:n.*993_*994del
ENST00000621359.2:c.2021_2022del ENSP00000481416.1:p.Gly674GlufsTer24
NM_000251.2:c.2021_2022del , LRG_218t1:c.2021_2022del NP_000242.1:p.Gly674GlufsTer24
NM_001258281.1:c.1823_1824del NP_001245210.1:p.Gly608GlufsTer24
XM_005264332.2:c.2021_2022del XP_005264389.2:p.Gly674GlufsTer24
XM_011532867.1:c.2021_2022del XP_011531169.1:p.Gly674GlufsTer24
XR_939685.1:n.2093_2094del
XM_005264332.4:c.2021_2022del XP_005264389.2:p.Gly674GlufsTer24
XM_011532867.2:c.2021_2022del XP_011531169.1:p.Gly674GlufsTer24
XR_001738747.2:n.2083_2084del
XR_939685.2:n.2083_2084del
NM_000251.3:c.2021_2022del MANE Select NP_000242.1:p.Gly674GlufsTer24