Canonical Allele Identifier: CA021332
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91129
ClinVar RCV Id: RCV000076633 RCV002514358
dbSNP Id: rs63750551
MyVariant Identifiers: chr2:g.47637396_47637397del (hg19) chr2:g.47410257_47410258del (hg38)
PubMed: PMID:12660027 PMID:15952990 PMID:28874130
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47410257_47410258del , CM000664.2:g.47410257_47410258del GRCh38
NC_000002.11:g.47637396_47637397del , CM000664.1:g.47637396_47637397del GRCh37
NC_000002.10:g.47490900_47490901del NCBI36
NG_007110.2:g.12134_12135del , LRG_218:g.12134_12135del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.530_531del ENSP00000495641.2:p.Glu177ValfsTer3
ENST00000233146.7:c.530_531del MANE Select ENSP00000233146.2:p.Glu177ValfsTer3
ENST00000543555.6:c.332_333del ENSP00000442697.1:p.Glu111ValfsTer3
ENST00000644092.1:c.530_531del ENSP00000496351.1:p.Glu177ValfsTer3
ENST00000645339.1:c.530_531del ENSP00000496441.1:p.Glu177ValfsTer3
ENST00000645506.1:c.530_531del ENSP00000495455.1:p.Glu177ValfsTer3
ENST00000646415.1:c.530_531del ENSP00000495543.1:p.Glu177ValfsTer3
ENST00000233146.6:c.530_531del ENSP00000233146.2:p.Glu177ValfsTer3
ENST00000406134.5:c.530_531del ENSP00000384199.1:p.Glu177ValfsTer3
ENST00000454849.5:c.332_333del ENSP00000411482.1:p.Glu111ValfsTer3
ENST00000543555.5:c.332_333del ENSP00000442697.1:p.Glu111ValfsTer3
ENST00000610696.4:c.530_531del ENSP00000483159.1:p.Glu177ValfsTer3
ENST00000613514.4:c.530_531del ENSP00000484137.1:p.Glu177ValfsTer3
ENST00000617333.3:c.530_531del ENSP00000482468.1:p.Glu177ValfsTer3
ENST00000617938.4:c.530_531del ENSP00000481158.1:p.Glu177ValfsTer3
ENST00000621359.2:c.530_531del ENSP00000481416.1:p.Glu177ValfsTer3
NM_000251.2:c.530_531del , LRG_218t1:c.530_531del NP_000242.1:p.Glu177ValfsTer3
NM_001258281.1:c.332_333del NP_001245210.1:p.Glu111ValfsTer3
XM_005264332.2:c.530_531del XP_005264389.2:p.Glu177ValfsTer3
XM_011532867.1:c.530_531del XP_011531169.1:p.Glu177ValfsTer3
XR_939685.1:n.602_603del
XM_005264332.4:c.530_531del XP_005264389.2:p.Glu177ValfsTer3
XM_011532867.2:c.530_531del XP_011531169.1:p.Glu177ValfsTer3
XR_001738747.2:n.592_593del
XR_939685.2:n.592_593del
NM_000251.3:c.530_531del MANE Select NP_000242.1:p.Glu177ValfsTer3
Search 100 bp 5'
Search 100 bp 3'