Canonical Allele Identifier: CA019286
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90785
ClinVar RCV Id: RCV000076284
dbSNP Id: rs267607691
MyVariant Identifiers: chr2:g.47702185_47702186insCT (hg19) chr2:g.47475046_47475047insCT (hg38)
PubMed: PMID:14504054 PMID:15862756
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475046_47475047insCT , CM000664.2:g.47475046_47475047insCT GRCh38
NC_000002.11:g.47702185_47702186insCT , CM000664.1:g.47702185_47702186insCT GRCh37
NC_000002.10:g.47555689_47555690insCT NCBI36
NG_007110.2:g.76923_76924insCT , LRG_218:g.76923_76924insCT

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1781_1782insCT ENSP00000495641.2:p.Leu595TyrfsTer6
ENST00000233146.7:c.1781_1782insCT MANE Select ENSP00000233146.2:p.Leu595TyrfsTer6
ENST00000543555.6:c.1583_1584insCT ENSP00000442697.1:p.Leu529TyrfsTer6
ENST00000644092.1:c.*81_*82insCT ENSP00000496351.1:n.*81_*82insCT
ENST00000645339.1:c.1781_1782insCT ENSP00000496441.1:p.Leu595TyrfsTer6
ENST00000645506.1:c.1781_1782insCT ENSP00000495455.1:p.Leu595TyrfsTer6
ENST00000646415.1:c.1781_1782insCT ENSP00000495543.1:p.Leu595TyrfsTer6
ENST00000233146.6:c.1781_1782insCT ENSP00000233146.2:p.Leu595TyrfsTer6
ENST00000406134.5:c.1781_1782insCT ENSP00000384199.1:p.Leu595TyrfsTer6
ENST00000543555.5:c.1583_1584insCT ENSP00000442697.1:p.Leu529TyrfsTer6
ENST00000610696.4:c.*177_*178insCT ENSP00000483159.1:n.*177_*178insCT
ENST00000613514.4:c.*321_*322insCT ENSP00000484137.1:n.*321_*322insCT
ENST00000617333.3:c.*547_*548insCT ENSP00000482468.1:n.*547_*548insCT
ENST00000617938.4:c.*753_*754insCT ENSP00000481158.1:n.*753_*754insCT
ENST00000621359.2:c.1781_1782insCT ENSP00000481416.1:p.Leu595TyrfsTer6
NM_000251.2:c.1781_1782insCT , LRG_218t1:c.1781_1782insCT NP_000242.1:p.Leu595TyrfsTer6
NM_001258281.1:c.1583_1584insCT NP_001245210.1:p.Leu529TyrfsTer6
XM_005264332.2:c.1781_1782insCT XP_005264389.2:p.Leu595TyrfsTer6
XM_011532867.1:c.1781_1782insCT XP_011531169.1:p.Leu595TyrfsTer6
XR_939685.1:n.1853_1854insCT
XM_005264332.4:c.1781_1782insCT XP_005264389.2:p.Leu595TyrfsTer6
XM_011532867.2:c.1781_1782insCT XP_011531169.1:p.Leu595TyrfsTer6
XR_001738747.2:n.1843_1844insCT
XR_939685.2:n.1843_1844insCT
NM_000251.3:c.1781_1782insCT MANE Select NP_000242.1:p.Leu595TyrfsTer6
Search 100 bp 5'
Search 100 bp 3'