Canonical Allele Identifier: CA020511
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 156502
ClinVar RCV Id: RCV000144612
dbSNP Id: rs63750937

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47478424_47478425del , CM000664.2:g.47478424_47478425del GRCh38
NC_000002.11:g.47705563_47705564del , CM000664.1:g.47705563_47705564del GRCh37
NC_000002.10:g.47559067_47559068del NCBI36
NG_007110.2:g.80301_80302del , LRG_218:g.80301_80302del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.2363_2364del ENSP00000495641.2:p.Thr788SerfsTer10
ENST00000233146.7:c.2363_2364del MANE Select ENSP00000233146.2:p.Thr788SerfsTer10
ENST00000543555.6:c.2165_2166del ENSP00000442697.1:p.Thr722SerfsTer10
ENST00000644092.1:c.*663_*664del ENSP00000496351.1:n.*663_*664del
ENST00000644900.1:c.216_217del
ENST00000645339.1:c.2363_2364del ENSP00000496441.1:p.Thr788SerfsTer10
ENST00000645506.1:c.2363_2364del ENSP00000495455.1:p.Thr788SerfsTer10
ENST00000646415.1:c.2363_2364del ENSP00000495543.1:p.Thr788SerfsTer10
ENST00000233146.6:c.2363_2364del ENSP00000233146.2:p.Thr788SerfsTer10
ENST00000406134.5:c.2363_2364del ENSP00000384199.1:p.Thr788SerfsTer10
ENST00000543555.5:c.2165_2166del ENSP00000442697.1:p.Thr722SerfsTer10
ENST00000610696.4:c.*759_*760del ENSP00000483159.1:n.*759_*760del
ENST00000613514.4:c.*903_*904del ENSP00000484137.1:n.*903_*904del
ENST00000617333.3:c.*1129_*1130del ENSP00000482468.1:n.*1129_*1130del
ENST00000617938.4:c.*1335_*1336del ENSP00000481158.1:n.*1335_*1336del
ENST00000621359.2:c.2362_2363del ENSP00000481416.1:p.Leu788AlafsTer?
NM_000251.2:c.2363_2364del , LRG_218t1:c.2363_2364del NP_000242.1:p.Thr788SerfsTer10
NM_001258281.1:c.2165_2166del NP_001245210.1:p.Thr722SerfsTer10
XM_005264332.2:c.2363_2364del XP_005264389.2:p.Thr788SerfsTer10
XM_011532867.1:c.2363_2364del XP_011531169.1:p.Thr788SerfsTer10
XR_939685.1:n.2435_2436del
XM_005264332.4:c.2363_2364del XP_005264389.2:p.Thr788SerfsTer10
XM_011532867.2:c.2363_2364del XP_011531169.1:p.Thr788SerfsTer10
XR_001738747.2:n.2425_2426del
XR_939685.2:n.2425_2426del
NM_000251.3:c.2363_2364del MANE Select NP_000242.1:p.Thr788SerfsTer10