Canonical Allele Identifier: CA186235
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 36579
dbSNP Id: rs193922375

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47414336dup , CM000664.2:g.47414336dup GRCh38
NC_000002.11:g.47641475dup , CM000664.1:g.47641475dup GRCh37
NC_000002.10:g.47494979dup NCBI36
NG_007110.2:g.16213dup , LRG_218:g.16213dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.860dup ENSP00000495641.2:p.Gln288ThrfsTer3
ENST00000233146.7:c.860dup MANE Select ENSP00000233146.2:p.Gln288ThrfsTer3
ENST00000543555.6:c.662dup ENSP00000442697.1:p.Gln222ThrfsTer3
ENST00000644092.1:c.860dup ENSP00000496351.1:p.Gln288ThrfsTer3
ENST00000645339.1:c.860dup ENSP00000496441.1:p.Gln288ThrfsTer3
ENST00000645506.1:c.860dup ENSP00000495455.1:p.Gln288ThrfsTer3
ENST00000646415.1:c.860dup ENSP00000495543.1:p.Gln288ThrfsTer3
ENST00000233146.6:c.860dup ENSP00000233146.2:p.Gln288ThrfsTer3
ENST00000406134.5:c.860dup ENSP00000384199.1:p.Gln288ThrfsTer3
ENST00000543555.5:c.662dup ENSP00000442697.1:p.Gln222ThrfsTer3
ENST00000610696.4:c.860dup ENSP00000483159.1:p.Gln288ThrfsTer3
ENST00000613514.4:c.860dup ENSP00000484137.1:p.Gln288ThrfsTer3
ENST00000617333.3:c.860dup ENSP00000482468.1:p.Gln288ThrfsTer3
ENST00000617938.4:c.860dup ENSP00000481158.1:p.Gln288ThrfsTer3
ENST00000621359.2:c.860dup ENSP00000481416.1:p.Gln288ThrfsTer3
NM_000251.2:c.860dup , LRG_218t1:c.860dup NP_000242.1:p.Gln288ThrfsTer3
NM_001258281.1:c.662dup NP_001245210.1:p.Gln222ThrfsTer3
XM_005264332.2:c.860dup XP_005264389.2:p.Gln288ThrfsTer3
XM_011532867.1:c.860dup XP_011531169.1:p.Gln288ThrfsTer3
XR_939685.1:n.932dup
XM_005264332.4:c.860dup XP_005264389.2:p.Gln288ThrfsTer3
XM_011532867.2:c.860dup XP_011531169.1:p.Gln288ThrfsTer3
XR_001738747.2:n.922dup
XR_939685.2:n.922dup
NM_000251.3:c.860dup MANE Select NP_000242.1:p.Gln288ThrfsTer3