Canonical Allele Identifier: CA020449
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90952
ClinVar RCV Id: RCV000076454
dbSNP Id: rs63751143
MyVariant Identifiers: chr2:g.47705495del (hg19) chr2:g.47478356del (hg38)
PubMed: PMID:14749686
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47478356del , CM000664.2:g.47478356del GRCh38
NC_000002.11:g.47705495del , CM000664.1:g.47705495del GRCh37
NC_000002.10:g.47558999del NCBI36
NG_007110.2:g.80233del , LRG_218:g.80233del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2295del ENSP00000495641.2:p.Ile766TyrfsTer?
ENST00000233146.7:c.2295del MANE Select ENSP00000233146.2:p.Ile766TyrfsTer?
ENST00000543555.6:c.2097del ENSP00000442697.1:p.Ile700TyrfsTer?
ENST00000644092.1:c.*595del ENSP00000496351.1:n.*595del
ENST00000644900.1:c.148del
ENST00000645339.1:c.2295del ENSP00000496441.1:p.Ile766TyrfsTer?
ENST00000645506.1:c.2295del ENSP00000495455.1:p.Ile766TyrfsTer?
ENST00000646415.1:c.2295del ENSP00000495543.1:p.Ile766TyrfsTer?
ENST00000233146.6:c.2295del ENSP00000233146.2:p.Ile766TyrfsTer?
ENST00000406134.5:c.2295del ENSP00000384199.1:p.Ile766TyrfsTer?
ENST00000543555.5:c.2097del ENSP00000442697.1:p.Ile700TyrfsTer?
ENST00000610696.4:c.*691del ENSP00000483159.1:n.*691del
ENST00000613514.4:c.*835del ENSP00000484137.1:n.*835del
ENST00000617333.3:c.*1061del ENSP00000482468.1:n.*1061del
ENST00000617938.4:c.*1267del ENSP00000481158.1:n.*1267del
ENST00000621359.2:c.2295del ENSP00000481416.1:p.Ile766TyrfsTer20
NM_000251.2:c.2295del , LRG_218t1:c.2295del NP_000242.1:p.Ile766TyrfsTer?
NM_001258281.1:c.2097del NP_001245210.1:p.Ile700TyrfsTer?
XM_005264332.2:c.2295del XP_005264389.2:p.Ile766TyrfsTer?
XM_011532867.1:c.2295del XP_011531169.1:p.Ile766TyrfsTer?
XR_939685.1:n.2367del
XM_005264332.4:c.2295del XP_005264389.2:p.Ile766TyrfsTer?
XM_011532867.2:c.2295del XP_011531169.1:p.Ile766TyrfsTer?
XR_001738747.2:n.2357del
XR_939685.2:n.2357del
NM_000251.3:c.2295del MANE Select NP_000242.1:p.Ile766TyrfsTer?
Search 100 bp 5'
Search 100 bp 3'