Canonical Allele Identifier: CA019815
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90859
ClinVar RCV Id: RCV000076361
dbSNP Id: rs63751161
MyVariant Identifiers: chr2:g.47703515del (hg19) chr2:g.47476376del (hg38)
PubMed: PMID:9634524 PMID:11231323 PMID:11859205 PMID:12063922 PMID:15235030
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476376del , CM000664.2:g.47476376del GRCh38
NC_000002.11:g.47703515del , CM000664.1:g.47703515del GRCh37
NC_000002.10:g.47557019del NCBI36
NG_007110.2:g.78253del , LRG_218:g.78253del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.2015del ENSP00000495641.2:p.Met672ArgfsTer13
ENST00000233146.7:c.2015del MANE Select ENSP00000233146.2:p.Met672ArgfsTer13
ENST00000543555.6:c.1817del ENSP00000442697.1:p.Met606ArgfsTer13
ENST00000644092.1:c.*315del ENSP00000496351.1:n.*315del
ENST00000645339.1:c.2015del ENSP00000496441.1:p.Met672ArgfsTer13
ENST00000645506.1:c.2015del ENSP00000495455.1:p.Met672ArgfsTer13
ENST00000646415.1:c.2015del ENSP00000495543.1:p.Met672ArgfsTer13
ENST00000233146.6:c.2015del ENSP00000233146.2:p.Met672ArgfsTer13
ENST00000406134.5:c.2015del ENSP00000384199.1:p.Met672ArgfsTer13
ENST00000543555.5:c.1817del ENSP00000442697.1:p.Met606ArgfsTer13
ENST00000610696.4:c.*411del ENSP00000483159.1:n.*411del
ENST00000613514.4:c.*555del ENSP00000484137.1:n.*555del
ENST00000617333.3:c.*781del ENSP00000482468.1:n.*781del
ENST00000617938.4:c.*987del ENSP00000481158.1:n.*987del
ENST00000621359.2:c.2015del ENSP00000481416.1:p.Met672ArgfsTer13
NM_000251.2:c.2015del , LRG_218t1:c.2015del NP_000242.1:p.Met672ArgfsTer13
NM_001258281.1:c.1817del NP_001245210.1:p.Met606ArgfsTer13
XM_005264332.2:c.2015del XP_005264389.2:p.Met672ArgfsTer13
XM_011532867.1:c.2015del XP_011531169.1:p.Met672ArgfsTer13
XR_939685.1:n.2087del
XM_005264332.4:c.2015del XP_005264389.2:p.Met672ArgfsTer13
XM_011532867.2:c.2015del XP_011531169.1:p.Met672ArgfsTer13
XR_001738747.2:n.2077del
XR_939685.2:n.2077del
NM_000251.3:c.2015del MANE Select NP_000242.1:p.Met672ArgfsTer13
Search 100 bp 5'
Search 100 bp 3'