Canonical Allele Identifier: CA2499216066
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1050439
ClinVar RCV Id: RCV001357881

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47482776_47482949del , CM000664.2:g.47482776_47482949del GRCh38
NC_000002.11:g.47709915_47710088del , CM000664.1:g.47709915_47710088del GRCh37
NC_000002.10:g.47563419_47563592del NCBI36
NG_007110.2:g.84653_84826del , LRG_218:g.84653_84826del

Transcript Alleles

HGVS Amino-acid change
ENST00000233146.7:c.2635-3_2805del
ENST00000543555.6:c.2437-3_2607del
ENST00000644092.1:c.*934+1905_*934+2078del ENSP00000496351.1:p.=
ENST00000644900.1:n.487+1905_487+2078del
ENST00000645339.1:c.2634+1905_2634+2078del ENSP00000496441.1:p.=
ENST00000645506.1:c.2634+1905_2634+2078del ENSP00000495455.1:p.=
ENST00000646415.1:c.2634+1905_2634+2078del ENSP00000495543.1:p.=
ENST00000233146.6:c.2635-3_2805del
ENST00000406134.5:c.2634+1905_2634+2078del ENSP00000384199.1:p.=
ENST00000461394.5:n.75+1905_75+2078del
ENST00000543555.5:c.2437-3_2607del
ENST00000610696.4:c.*1031-3_*1201del
ENST00000613514.4:c.*1175-3_*1345del
ENST00000617333.3:c.*1401-3_*1571del
ENST00000617938.4:c.*1607-3_*1777del
ENST00000621359.2:c.*201-3_*371del
NM_000251.2:c.2635-3_2805del , LRG_218t1:c.2635-3_2805del
NM_001258281.1:c.2437-3_2607del
XM_005264332.2:c.2634+1905_2634+2078del XP_005264389.2:p.=
XM_011532867.1:c.2634+1905_2634+2078del XP_011531169.1:p.=
XR_939685.1:n.2706+1905_2706+2078del
XM_005264332.4:c.2634+1905_2634+2078del XP_005264389.2:p.=
XM_011532867.2:c.2634+1905_2634+2078del XP_011531169.1:p.=
XR_001738747.2:n.2696+1905_2696+2078del
XR_939685.2:n.2696+1905_2696+2078del
NM_000251.3:c.2635-3_2805del