Canonical Allele Identifier: CA020863
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91031
dbSNP Id: rs63750084

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47482791dup , CM000664.2:g.47482791dup GRCh38
NC_000002.11:g.47709930dup , CM000664.1:g.47709930dup GRCh37
NC_000002.10:g.47563434dup NCBI36
NG_007110.2:g.84668dup , LRG_218:g.84668dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.2634+1920dup ENSP00000495641.2:n.2634+1920dup
ENST00000233146.7:c.2647dup MANE Select ENSP00000233146.2:p.Ile883AsnfsTer16
ENST00000543555.6:c.2449dup ENSP00000442697.1:p.Ile817AsnfsTer16
ENST00000644092.1:c.*934+1920dup ENSP00000496351.1:n.*934+1920dup
ENST00000644900.1:c.487+1920dup
ENST00000645339.1:c.2634+1920dup ENSP00000496441.1:n.2634+1920dup
ENST00000645506.1:c.2634+1920dup ENSP00000495455.1:n.2634+1920dup
ENST00000646415.1:c.2634+1920dup ENSP00000495543.1:n.2634+1920dup
ENST00000233146.6:c.2647dup ENSP00000233146.2:p.Ile883AsnfsTer16
ENST00000406134.5:c.2634+1920dup ENSP00000384199.1:n.2634+1920dup
ENST00000461394.5:n.75+1920dup
ENST00000543555.5:c.2449dup ENSP00000442697.1:p.Ile817AsnfsTer16
ENST00000610696.4:c.*1043dup ENSP00000483159.1:n.*1043dup
ENST00000613514.4:c.*1187dup ENSP00000484137.1:n.*1187dup
ENST00000617333.3:c.*1413dup ENSP00000482468.1:n.*1413dup
ENST00000617938.4:c.*1619dup ENSP00000481158.1:n.*1619dup
ENST00000621359.2:c.*213dup ENSP00000481416.1:n.*213dup
NM_000251.2:c.2647dup , LRG_218t1:c.2647dup NP_000242.1:p.Ile883AsnfsTer16
NM_001258281.1:c.2449dup NP_001245210.1:p.Ile817AsnfsTer16
XM_005264332.2:c.2634+1920dup XP_005264389.2:n.2634+1920dup
XM_011532867.1:c.2634+1920dup XP_011531169.1:n.2634+1920dup
XR_939685.1:n.2706+1920dup
XM_005264332.4:c.2634+1920dup XP_005264389.2:n.2634+1920dup
XM_011532867.2:c.2634+1920dup XP_011531169.1:n.2634+1920dup
XR_001738747.2:n.2696+1920dup
XR_939685.2:n.2696+1920dup
NM_000251.3:c.2647dup MANE Select NP_000242.1:p.Ile883AsnfsTer16