Canonical Allele Identifier: CA658655794
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 449931
ClinVar RCV Id: RCV000519753
dbSNP Id: rs1553370880

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47482874del , CM000664.2:g.47482874del GRCh38
NC_000002.11:g.47710013del , CM000664.1:g.47710013del GRCh37
NC_000002.10:g.47563517del NCBI36
NG_007110.2:g.84751del , LRG_218:g.84751del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2634+2003del ENSP00000495641.2:n.2634+2003del
ENST00000233146.7:c.2730del MANE Select ENSP00000233146.2:p.Gln910HisfsTer2
ENST00000543555.6:c.2532del ENSP00000442697.1:p.Gln844HisfsTer2
ENST00000644092.1:c.*934+2003del ENSP00000496351.1:n.*934+2003del
ENST00000644900.1:c.487+2003del
ENST00000645339.1:c.2634+2003del ENSP00000496441.1:n.2634+2003del
ENST00000645506.1:c.2634+2003del ENSP00000495455.1:n.2634+2003del
ENST00000646415.1:c.2634+2003del ENSP00000495543.1:n.2634+2003del
ENST00000233146.6:c.2730del ENSP00000233146.2:p.Gln910HisfsTer2
ENST00000406134.5:c.2634+2003del ENSP00000384199.1:n.2634+2003del
ENST00000461394.5:n.75+2003del
ENST00000543555.5:c.2532del ENSP00000442697.1:p.Gln844HisfsTer2
ENST00000610696.4:c.*1126del ENSP00000483159.1:n.*1126del
ENST00000613514.4:c.*1270del ENSP00000484137.1:n.*1270del
ENST00000617333.3:c.*1496del ENSP00000482468.1:n.*1496del
ENST00000617938.4:c.*1702del ENSP00000481158.1:n.*1702del
ENST00000621359.2:c.*296del ENSP00000481416.1:n.*296del
NM_000251.2:c.2730del , LRG_218t1:c.2730del NP_000242.1:p.Gln910HisfsTer2
NM_001258281.1:c.2532del NP_001245210.1:p.Gln844HisfsTer2
XM_005264332.2:c.2634+2003del XP_005264389.2:n.2634+2003del
XM_011532867.1:c.2634+2003del XP_011531169.1:n.2634+2003del
XR_939685.1:n.2706+2003del
XM_005264332.4:c.2634+2003del XP_005264389.2:n.2634+2003del
XM_011532867.2:c.2634+2003del XP_011531169.1:n.2634+2003del
XR_001738747.2:n.2696+2003del
XR_939685.2:n.2696+2003del
NM_000251.3:c.2730del MANE Select NP_000242.1:p.Gln910HisfsTer2