Canonical Allele Identifier: CA017482
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90564
ClinVar RCV Id: RCV000076060 RCV000538916 RCV000576682 RCV002345385
dbSNP Id: rs63750586
COSMIC: COSM5967464
MyVariant Identifiers: chr2:g.47657007dupA (hg19) chr2:g.47429868dupA (hg38)
PubMed: PMID:17453009 PMID:20591884 PMID:26517685
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47429868dup , CM000664.2:g.47429868dup GRCh38
NC_000002.11:g.47657007dup , CM000664.1:g.47657007dup GRCh37
NC_000002.10:g.47510511dup NCBI36
NG_007110.2:g.31745dup , LRG_218:g.31745dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1203dup ENSP00000495641.2:p.Gln402ThrfsTer15
ENST00000233146.7:c.1203dup MANE Select ENSP00000233146.2:p.Gln402ThrfsTer15
ENST00000543555.6:c.1005dup ENSP00000442697.1:p.Gln336ThrfsTer15
ENST00000644092.1:c.1203dup ENSP00000496351.1:p.Gln402ThrfsTer15
ENST00000645339.1:c.1203dup ENSP00000496441.1:p.Gln402ThrfsTer15
ENST00000645506.1:c.1203dup ENSP00000495455.1:p.Gln402ThrfsTer15
ENST00000646415.1:c.1203dup ENSP00000495543.1:p.Gln402ThrfsTer15
ENST00000233146.6:c.1203dup ENSP00000233146.2:p.Gln402ThrfsTer15
ENST00000406134.5:c.1203dup ENSP00000384199.1:p.Gln402ThrfsTer15
ENST00000543555.5:c.1005dup ENSP00000442697.1:p.Gln336ThrfsTer15
ENST00000610696.4:c.1203dup ENSP00000483159.1:p.Gln402ThrfsTer15
ENST00000613514.4:c.1203dup ENSP00000484137.1:p.Gln402ThrfsTer15
ENST00000617333.3:c.1202dup ENSP00000482468.1:p.Tyr401Ter
ENST00000617938.4:c.*175dup ENSP00000481158.1:n.*175dup
ENST00000621359.2:c.1203dup ENSP00000481416.1:p.Gln402ThrfsTer15
NM_000251.2:c.1203dup , LRG_218t1:c.1203dup NP_000242.1:p.Gln402ThrfsTer15
NM_001258281.1:c.1005dup NP_001245210.1:p.Gln336ThrfsTer15
XM_005264332.2:c.1203dup XP_005264389.2:p.Gln402ThrfsTer15
XM_011532867.1:c.1203dup XP_011531169.1:p.Gln402ThrfsTer15
XR_939685.1:n.1275dup
XM_005264332.4:c.1203dup XP_005264389.2:p.Gln402ThrfsTer15
XM_011532867.2:c.1203dup XP_011531169.1:p.Gln402ThrfsTer15
XR_001738747.2:n.1265dup
XR_939685.2:n.1265dup
NM_000251.3:c.1203dup MANE Select NP_000242.1:p.Gln402ThrfsTer15
Search 100 bp 5'
Search 100 bp 3'