Canonical Allele Identifier: CA020416
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90947
ClinVar RCV Id: RCV000076449
dbSNP Id: rs63749913
MyVariant Identifiers: chr2:g.47705490del (hg19) chr2:g.47478351del (hg38)
PubMed: PMID:14749686
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47478351del , CM000664.2:g.47478351del GRCh38
NC_000002.11:g.47705490del , CM000664.1:g.47705490del GRCh37
NC_000002.10:g.47558994del NCBI36
NG_007110.2:g.80228del , LRG_218:g.80228del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.2290del ENSP00000495641.2:p.Trp764GlyfsTer?
ENST00000233146.7:c.2290del MANE Select ENSP00000233146.2:p.Trp764GlyfsTer?
ENST00000543555.6:c.2092del ENSP00000442697.1:p.Trp698GlyfsTer?
ENST00000644092.1:c.*590del ENSP00000496351.1:n.*590del
ENST00000644900.1:c.143del
ENST00000645339.1:c.2290del ENSP00000496441.1:p.Trp764GlyfsTer?
ENST00000645506.1:c.2290del ENSP00000495455.1:p.Trp764GlyfsTer?
ENST00000646415.1:c.2290del ENSP00000495543.1:p.Trp764GlyfsTer?
ENST00000233146.6:c.2290del ENSP00000233146.2:p.Trp764GlyfsTer?
ENST00000406134.5:c.2290del ENSP00000384199.1:p.Trp764GlyfsTer?
ENST00000543555.5:c.2092del ENSP00000442697.1:p.Trp698GlyfsTer?
ENST00000610696.4:c.*686del ENSP00000483159.1:n.*686del
ENST00000613514.4:c.*830del ENSP00000484137.1:n.*830del
ENST00000617333.3:c.*1056del ENSP00000482468.1:n.*1056del
ENST00000617938.4:c.*1262del ENSP00000481158.1:n.*1262del
ENST00000621359.2:c.2290del ENSP00000481416.1:p.Trp764GlyfsTer22
NM_000251.2:c.2290del , LRG_218t1:c.2290del NP_000242.1:p.Trp764GlyfsTer?
NM_001258281.1:c.2092del NP_001245210.1:p.Trp698GlyfsTer?
XM_005264332.2:c.2290del XP_005264389.2:p.Trp764GlyfsTer?
XM_011532867.1:c.2290del XP_011531169.1:p.Trp764GlyfsTer?
XR_939685.1:n.2362del
XM_005264332.4:c.2290del XP_005264389.2:p.Trp764GlyfsTer?
XM_011532867.2:c.2290del XP_011531169.1:p.Trp764GlyfsTer?
XR_001738747.2:n.2352del
XR_939685.2:n.2352del
NM_000251.3:c.2290del MANE Select NP_000242.1:p.Trp764GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'