Canonical Allele Identifier: CA020658
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90989
ClinVar RCV Id: RCV002426636
dbSNP Id: rs63750008
MyVariant Identifiers: chr2:g.47707883del (hg19) chr2:g.47480744del (hg38)
PubMed: PMID:8613431 PMID:10404063
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47480744del , CM000664.2:g.47480744del GRCh38
NC_000002.11:g.47707883del , CM000664.1:g.47707883del GRCh37
NC_000002.10:g.47561387del NCBI36
NG_007110.2:g.82621del , LRG_218:g.82621del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.2507del ENSP00000495641.2:p.Phe836SerfsTer5
ENST00000233146.7:c.2507del MANE Select ENSP00000233146.2:p.Phe836SerfsTer5
ENST00000543555.6:c.2309del ENSP00000442697.1:p.Phe770SerfsTer5
ENST00000644092.1:c.*807del ENSP00000496351.1:n.*807del
ENST00000644900.1:c.360del
ENST00000645339.1:c.2507del ENSP00000496441.1:p.Phe836SerfsTer5
ENST00000645506.1:c.2507del ENSP00000495455.1:p.Phe836SerfsTer5
ENST00000646415.1:c.2507del ENSP00000495543.1:p.Phe836SerfsTer5
ENST00000233146.6:c.2507del ENSP00000233146.2:p.Phe836SerfsTer5
ENST00000406134.5:c.2507del ENSP00000384199.1:p.Phe836SerfsTer5
ENST00000543555.5:c.2309del ENSP00000442697.1:p.Phe770SerfsTer5
ENST00000610696.4:c.*903del ENSP00000483159.1:n.*903del
ENST00000613514.4:c.*1047del ENSP00000484137.1:n.*1047del
ENST00000617333.3:c.*1273del ENSP00000482468.1:n.*1273del
ENST00000617938.4:c.*1479del ENSP00000481158.1:n.*1479del
ENST00000621359.2:c.*73del ENSP00000481416.1:n.*73del
NM_000251.2:c.2507del , LRG_218t1:c.2507del NP_000242.1:p.Phe836SerfsTer5
NM_001258281.1:c.2309del NP_001245210.1:p.Phe770SerfsTer5
XM_005264332.2:c.2507del XP_005264389.2:p.Phe836SerfsTer5
XM_011532867.1:c.2507del XP_011531169.1:p.Phe836SerfsTer5
XR_939685.1:n.2579del
XM_005264332.4:c.2507del XP_005264389.2:p.Phe836SerfsTer5
XM_011532867.2:c.2507del XP_011531169.1:p.Phe836SerfsTer5
XR_001738747.2:n.2569del
XR_939685.2:n.2569del
NM_000251.3:c.2507del MANE Select NP_000242.1:p.Phe836SerfsTer5
Search 100 bp 5'
Search 100 bp 3'