Canonical Allele Identifier: CA2580066903
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1779566
ClinVar RCV Id: RCV002401658

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47474724_47475050dup , CM000664.2:g.47474724_47475050dup GRCh38
NC_000002.11:g.47701863_47702189dup , CM000664.1:g.47701863_47702189dup GRCh37
NC_000002.10:g.47555367_47555693dup NCBI36
NG_007110.2:g.76601_76927dup , LRG_218:g.76601_76927dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1760-301_1785dup
ENST00000233146.7:c.1760-301_1785dup
ENST00000543555.6:c.1562-301_1587dup
ENST00000644092.1:c.*60-301_*85dup
ENST00000645339.1:c.1760-301_1785dup
ENST00000645506.1:c.1760-301_1785dup
ENST00000646415.1:c.1760-301_1785dup
ENST00000233146.6:c.1760-301_1785dup
ENST00000406134.5:c.1760-301_1785dup
ENST00000543555.5:c.1562-301_1587dup
ENST00000610696.4:c.*156-301_*181dup
ENST00000613514.4:c.*300-301_*325dup
ENST00000617333.3:c.*526-301_*551dup
ENST00000617938.4:c.*732-301_*757dup
ENST00000621359.2:c.1760-301_1785dup
NM_000251.2:c.1760-301_1785dup , LRG_218t1:c.1760-301_1785dup
NM_001258281.1:c.1562-301_1587dup
XM_005264332.2:c.1760-301_1785dup
XM_011532867.1:c.1760-301_1785dup
XR_939685.1:n.1832-301_1857dup
XM_005264332.4:c.1760-301_1785dup
XM_011532867.2:c.1760-301_1785dup
XR_001738747.2:n.1822-301_1847dup
XR_939685.2:n.1822-301_1847dup
NM_000251.3:c.1760-301_1785dup