Canonical Allele Identifier: CA2499215987
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1057721
ClinVar RCV Id: RCV001366764
dbSNP Id: rs2104097745

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47412411_47412447dup , CM000664.2:g.47412411_47412447dup GRCh38
NC_000002.11:g.47639550_47639586dup , CM000664.1:g.47639550_47639586dup GRCh37
NC_000002.10:g.47493054_47493090dup NCBI36
NG_007110.2:g.14288_14324dup , LRG_218:g.14288_14324dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.646-3_679dup
ENST00000233146.7:c.646-3_679dup
ENST00000543555.6:c.448-3_481dup
ENST00000644092.1:c.646-3_679dup
ENST00000645339.1:c.646-3_679dup
ENST00000645506.1:c.646-3_679dup
ENST00000646415.1:c.646-3_679dup
ENST00000233146.6:c.646-3_679dup
ENST00000406134.5:c.646-3_679dup
ENST00000543555.5:c.448-3_481dup
ENST00000610696.4:c.646-3_679dup
ENST00000613514.4:c.646-3_679dup
ENST00000617333.3:c.646-3_679dup
ENST00000617938.4:c.646-3_679dup
ENST00000621359.2:c.646-3_679dup
NM_000251.2:c.646-3_679dup , LRG_218t1:c.646-3_679dup
NM_001258281.1:c.448-3_481dup
XM_005264332.2:c.646-3_679dup
XM_011532867.1:c.646-3_679dup
XR_939685.1:n.718-3_751dup
XM_005264332.4:c.646-3_679dup
XM_011532867.2:c.646-3_679dup
XR_001738747.2:n.708-3_741dup
XR_939685.2:n.708-3_741dup
NM_000251.3:c.646-3_679dup