Canonical Allele Identifier: CA2699313651
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs2104458450

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47482748del , CM000664.2:g.47482748del GRCh38
NC_000002.11:g.47709887del , CM000664.1:g.47709887del GRCh37
NC_000002.10:g.47563391del NCBI36
NG_007110.2:g.84625del , LRG_218:g.84625del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2634+1877del ENSP00000495641.2:n.2634+1877del
ENST00000233146.7:c.2635-31del MANE Select ENSP00000233146.2:n.2635-31del
ENST00000543555.6:c.2437-31del ENSP00000442697.1:n.2437-31del
ENST00000644092.1:c.*934+1877del ENSP00000496351.1:n.*934+1877del
ENST00000644900.1:c.487+1877del
ENST00000645339.1:c.2634+1877del ENSP00000496441.1:n.2634+1877del
ENST00000645506.1:c.2634+1877del ENSP00000495455.1:n.2634+1877del
ENST00000646415.1:c.2634+1877del ENSP00000495543.1:n.2634+1877del
ENST00000233146.6:c.2635-31del ENSP00000233146.2:n.2635-31del
ENST00000406134.5:c.2634+1877del ENSP00000384199.1:n.2634+1877del
ENST00000461394.5:n.75+1877del
ENST00000543555.5:c.2437-31del ENSP00000442697.1:n.2437-31del
ENST00000610696.4:c.*1031-31del ENSP00000483159.1:n.*1031-31del
ENST00000613514.4:c.*1175-31del ENSP00000484137.1:n.*1175-31del
ENST00000617333.3:c.*1401-31del ENSP00000482468.1:n.*1401-31del
ENST00000617938.4:c.*1607-31del ENSP00000481158.1:n.*1607-31del
ENST00000621359.2:c.*201-31del ENSP00000481416.1:n.*201-31del
NM_000251.2:c.2635-31del , LRG_218t1:c.2635-31del NP_000242.1:n.2635-31del
NM_001258281.1:c.2437-31del NP_001245210.1:n.2437-31del
XM_005264332.2:c.2634+1877del XP_005264389.2:n.2634+1877del
XM_011532867.1:c.2634+1877del XP_011531169.1:n.2634+1877del
XR_939685.1:n.2706+1877del
XM_005264332.4:c.2634+1877del XP_005264389.2:n.2634+1877del
XM_011532867.2:c.2634+1877del XP_011531169.1:n.2634+1877del
XR_001738747.2:n.2696+1877del
XR_939685.2:n.2696+1877del
NM_000251.3:c.2635-31del MANE Select NP_000242.1:n.2635-31del