Canonical Allele Identifier: CA018756
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90710
ClinVar RCV Id: RCV002399454
dbSNP Id: rs63750675
MyVariant Identifiers: chr2:g.47693913del (hg19) chr2:g.47466774del (hg38)
PubMed: PMID:15289847 PMID:16288214
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47466774del , CM000664.2:g.47466774del GRCh38
NC_000002.11:g.47693913del , CM000664.1:g.47693913del GRCh37
NC_000002.10:g.47547417del NCBI36
NG_007110.2:g.68651del , LRG_218:g.68651del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1627del ENSP00000495641.2:p.Asp543IlefsTer14
ENST00000233146.7:c.1627del MANE Select ENSP00000233146.2:p.Asp543IlefsTer14
ENST00000543555.6:c.1429del ENSP00000442697.1:p.Asp477IlefsTer14
ENST00000644092.1:c.1627del ENSP00000496351.1:p.Asp543IlefsTer?
ENST00000645339.1:c.1627del ENSP00000496441.1:p.Asp543IlefsTer14
ENST00000645506.1:c.1627del ENSP00000495455.1:p.Asp543IlefsTer14
ENST00000646415.1:c.1627del ENSP00000495543.1:p.Asp543IlefsTer14
ENST00000233146.6:c.1627del ENSP00000233146.2:p.Asp543IlefsTer14
ENST00000406134.5:c.1627del ENSP00000384199.1:p.Asp543IlefsTer14
ENST00000543555.5:c.1429del ENSP00000442697.1:p.Asp477IlefsTer14
ENST00000610696.4:c.*23del ENSP00000483159.1:n.*23del
ENST00000613514.4:c.*167del ENSP00000484137.1:n.*167del
ENST00000617333.3:c.*393del ENSP00000482468.1:n.*393del
ENST00000617938.4:c.*599del ENSP00000481158.1:n.*599del
ENST00000621359.2:c.1627del ENSP00000481416.1:p.Asp543IlefsTer14
NM_000251.2:c.1627del , LRG_218t1:c.1627del NP_000242.1:p.Asp543IlefsTer14
NM_001258281.1:c.1429del NP_001245210.1:p.Asp477IlefsTer14
XM_005264332.2:c.1627del XP_005264389.2:p.Asp543IlefsTer14
XM_011532867.1:c.1627del XP_011531169.1:p.Asp543IlefsTer14
XR_939685.1:n.1699del
XM_005264332.4:c.1627del XP_005264389.2:p.Asp543IlefsTer14
XM_011532867.2:c.1627del XP_011531169.1:p.Asp543IlefsTer14
XR_001738747.2:n.1689del
XR_939685.2:n.1689del
NM_000251.3:c.1627del MANE Select NP_000242.1:p.Asp543IlefsTer14
Search 100 bp 5'
Search 100 bp 3'