Canonical Allele Identifier: CA16617595
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421423
dbSNP Id: rs1064795127

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475148del , CM000664.2:g.47475148del GRCh38
NC_000002.11:g.47702287del , CM000664.1:g.47702287del GRCh37
NC_000002.10:g.47555791del NCBI36
NG_007110.2:g.77025del , LRG_218:g.77025del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1883del ENSP00000495641.2:p.Gly628AspfsTer7
ENST00000233146.7:c.1883del MANE Select ENSP00000233146.2:p.Gly628AspfsTer7
ENST00000543555.6:c.1685del ENSP00000442697.1:p.Gly562AspfsTer7
ENST00000644092.1:c.*183del ENSP00000496351.1:n.*183del
ENST00000645339.1:c.1883del ENSP00000496441.1:p.Gly628AspfsTer7
ENST00000645506.1:c.1883del ENSP00000495455.1:p.Gly628AspfsTer7
ENST00000646415.1:c.1883del ENSP00000495543.1:p.Gly628AspfsTer7
ENST00000233146.6:c.1883del ENSP00000233146.2:p.Gly628AspfsTer7
ENST00000406134.5:c.1883del ENSP00000384199.1:p.Gly628AspfsTer7
ENST00000543555.5:c.1685del ENSP00000442697.1:p.Gly562AspfsTer7
ENST00000610696.4:c.*279del ENSP00000483159.1:n.*279del
ENST00000613514.4:c.*423del ENSP00000484137.1:n.*423del
ENST00000617333.3:c.*649del ENSP00000482468.1:n.*649del
ENST00000617938.4:c.*855del ENSP00000481158.1:n.*855del
ENST00000621359.2:c.1883del ENSP00000481416.1:p.Gly628AspfsTer7
NM_000251.2:c.1883del , LRG_218t1:c.1883del NP_000242.1:p.Gly628AspfsTer7
NM_001258281.1:c.1685del NP_001245210.1:p.Gly562AspfsTer7
XM_005264332.2:c.1883del XP_005264389.2:p.Gly628AspfsTer7
XM_011532867.1:c.1883del XP_011531169.1:p.Gly628AspfsTer7
XR_939685.1:n.1955del
XM_005264332.4:c.1883del XP_005264389.2:p.Gly628AspfsTer7
XM_011532867.2:c.1883del XP_011531169.1:p.Gly628AspfsTer7
XR_001738747.2:n.1945del
XR_939685.2:n.1945del
NM_000251.3:c.1883del MANE Select NP_000242.1:p.Gly628AspfsTer7