Canonical Allele Identifier: CA019958
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90879
ClinVar RCV Id: RCV000076381
dbSNP Id: rs587779135

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476435_47476442del , CM000664.2:g.47476435_47476442del GRCh38
NC_000002.11:g.47703574_47703581del , CM000664.1:g.47703574_47703581del GRCh37
NC_000002.10:g.47557078_47557085del NCBI36
NG_007110.2:g.78312_78319del , LRG_218:g.78312_78319del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.2074_2081del ENSP00000495641.2:p.Gly692CysfsTer4
ENST00000233146.7:c.2074_2081del MANE Select ENSP00000233146.2:p.Gly692CysfsTer4
ENST00000543555.6:c.1876_1883del ENSP00000442697.1:p.Gly626CysfsTer4
ENST00000644092.1:c.*374_*381del ENSP00000496351.1:n.*374_*381del
ENST00000645339.1:c.2074_2081del ENSP00000496441.1:p.Gly692CysfsTer4
ENST00000645506.1:c.2074_2081del ENSP00000495455.1:p.Gly692CysfsTer4
ENST00000646415.1:c.2074_2081del ENSP00000495543.1:p.Gly692CysfsTer4
ENST00000233146.6:c.2074_2081del ENSP00000233146.2:p.Gly692CysfsTer4
ENST00000406134.5:c.2074_2081del ENSP00000384199.1:p.Gly692CysfsTer4
ENST00000543555.5:c.1876_1883del ENSP00000442697.1:p.Gly626CysfsTer4
ENST00000610696.4:c.*470_*477del ENSP00000483159.1:n.*470_*477del
ENST00000613514.4:c.*614_*621del ENSP00000484137.1:n.*614_*621del
ENST00000617333.3:c.*840_*847del ENSP00000482468.1:n.*840_*847del
ENST00000617938.4:c.*1046_*1053del ENSP00000481158.1:n.*1046_*1053del
ENST00000621359.2:c.2074_2081del ENSP00000481416.1:p.Gly692CysfsTer4
NM_000251.2:c.2074_2081del , LRG_218t1:c.2074_2081del NP_000242.1:p.Gly692CysfsTer4
NM_001258281.1:c.1876_1883del NP_001245210.1:p.Gly626CysfsTer4
XM_005264332.2:c.2074_2081del XP_005264389.2:p.Gly692CysfsTer4
XM_011532867.1:c.2074_2081del XP_011531169.1:p.Gly692CysfsTer4
XR_939685.1:n.2146_2153del
XM_005264332.4:c.2074_2081del XP_005264389.2:p.Gly692CysfsTer4
XM_011532867.2:c.2074_2081del XP_011531169.1:p.Gly692CysfsTer4
XR_001738747.2:n.2136_2143del
XR_939685.2:n.2136_2143del
NM_000251.3:c.2074_2081del MANE Select NP_000242.1:p.Gly692CysfsTer4