Canonical Allele Identifier: CA46702552
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 433894
ClinVar RCV Id: RCV000499404 RCV000802466 RCV002420272 RCV003449403
dbSNP Id: rs63750689
COSMIC: COSM26101
MyVariant Identifiers: chr2:g.47703582del (hg19) chr2:g.47476443del (hg38)
PubMed: PMID:9087566 PMID:10793088
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476443del , CM000664.2:g.47476443del GRCh38
NC_000002.11:g.47703582del , CM000664.1:g.47703582del GRCh37
NC_000002.10:g.47557086del NCBI36
NG_007110.2:g.78320del , LRG_218:g.78320del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2082del ENSP00000495641.2:p.Phe694LeufsTer16
ENST00000233146.7:c.2082del MANE Select ENSP00000233146.2:p.Phe694LeufsTer16
ENST00000543555.6:c.1884del ENSP00000442697.1:p.Phe628LeufsTer16
ENST00000644092.1:c.*382del ENSP00000496351.1:n.*382del
ENST00000645339.1:c.2082del ENSP00000496441.1:p.Phe694LeufsTer16
ENST00000645506.1:c.2082del ENSP00000495455.1:p.Phe694LeufsTer16
ENST00000646415.1:c.2082del ENSP00000495543.1:p.Phe694LeufsTer16
ENST00000233146.6:c.2082del ENSP00000233146.2:p.Phe694LeufsTer16
ENST00000406134.5:c.2082del ENSP00000384199.1:p.Phe694LeufsTer16
ENST00000543555.5:c.1884del ENSP00000442697.1:p.Phe628LeufsTer16
ENST00000610696.4:c.*478del ENSP00000483159.1:n.*478del
ENST00000613514.4:c.*622del ENSP00000484137.1:n.*622del
ENST00000617333.3:c.*848del ENSP00000482468.1:n.*848del
ENST00000617938.4:c.*1054del ENSP00000481158.1:n.*1054del
ENST00000621359.2:c.2082del ENSP00000481416.1:p.Phe694LeufsTer16
NM_000251.2:c.2082del , LRG_218t1:c.2082del NP_000242.1:p.Phe694LeufsTer16
NM_001258281.1:c.1884del NP_001245210.1:p.Phe628LeufsTer16
XM_005264332.2:c.2082del XP_005264389.2:p.Phe694LeufsTer16
XM_011532867.1:c.2082del XP_011531169.1:p.Phe694LeufsTer16
XR_939685.1:n.2154del
XM_005264332.4:c.2082del XP_005264389.2:p.Phe694LeufsTer16
XM_011532867.2:c.2082del XP_011531169.1:p.Phe694LeufsTer16
XR_001738747.2:n.2144del
XR_939685.2:n.2144del
NM_000251.3:c.2082del MANE Select NP_000242.1:p.Phe694LeufsTer16
Search 100 bp 5'
Search 100 bp 3'