Canonical Allele Identifier: CA020127
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90908
ClinVar RCV Id: RCV000076410
dbSNP Id: rs63750545
MyVariant Identifiers: chr2:g.47703641dupC (hg19) chr2:g.47476502dupC (hg38)
PubMed: PMID:10524526
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476502dup , CM000664.2:g.47476502dup GRCh38
NC_000002.11:g.47703641dup , CM000664.1:g.47703641dup GRCh37
NC_000002.10:g.47557145dup NCBI36
NG_007110.2:g.78379dup , LRG_218:g.78379dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.2141dup ENSP00000495641.2:p.Gly715TrpfsTer2
ENST00000233146.7:c.2141dup MANE Select ENSP00000233146.2:p.Gly715TrpfsTer2
ENST00000543555.6:c.1943dup ENSP00000442697.1:p.Gly649TrpfsTer2
ENST00000644092.1:c.*441dup ENSP00000496351.1:n.*441dup
ENST00000645339.1:c.2141dup ENSP00000496441.1:p.Gly715TrpfsTer2
ENST00000645506.1:c.2141dup ENSP00000495455.1:p.Gly715TrpfsTer2
ENST00000646415.1:c.2141dup ENSP00000495543.1:p.Gly715TrpfsTer2
ENST00000233146.6:c.2141dup ENSP00000233146.2:p.Gly715TrpfsTer2
ENST00000406134.5:c.2141dup ENSP00000384199.1:p.Gly715TrpfsTer2
ENST00000543555.5:c.1943dup ENSP00000442697.1:p.Gly649TrpfsTer2
ENST00000610696.4:c.*537dup ENSP00000483159.1:n.*537dup
ENST00000613514.4:c.*681dup ENSP00000484137.1:n.*681dup
ENST00000617333.3:c.*907dup ENSP00000482468.1:n.*907dup
ENST00000617938.4:c.*1113dup ENSP00000481158.1:n.*1113dup
ENST00000621359.2:c.2141dup ENSP00000481416.1:p.Gly715TrpfsTer2
NM_000251.2:c.2141dup , LRG_218t1:c.2141dup NP_000242.1:p.Gly715TrpfsTer2
NM_001258281.1:c.1943dup NP_001245210.1:p.Gly649TrpfsTer2
XM_005264332.2:c.2141dup XP_005264389.2:p.Gly715TrpfsTer2
XM_011532867.1:c.2141dup XP_011531169.1:p.Gly715TrpfsTer2
XR_939685.1:n.2213dup
XM_005264332.4:c.2141dup XP_005264389.2:p.Gly715TrpfsTer2
XM_011532867.2:c.2141dup XP_011531169.1:p.Gly715TrpfsTer2
XR_001738747.2:n.2203dup
XR_939685.2:n.2203dup
NM_000251.3:c.2141dup MANE Select NP_000242.1:p.Gly715TrpfsTer2
Search 100 bp 5'
Search 100 bp 3'