Canonical Allele Identifier: CA2580066579
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1753661
ClinVar RCV Id: RCV002361904

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47412395_47412429del , CM000664.2:g.47412395_47412429del GRCh38
NC_000002.11:g.47639534_47639568del , CM000664.1:g.47639534_47639568del GRCh37
NC_000002.10:g.47493038_47493072del NCBI36
NG_007110.2:g.14272_14306del , LRG_218:g.14272_14306del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.646-19_661del
ENST00000233146.7:c.646-19_661del
ENST00000543555.6:c.448-19_463del
ENST00000644092.1:c.646-19_661del
ENST00000645339.1:c.646-19_661del
ENST00000645506.1:c.646-19_661del
ENST00000646415.1:c.646-19_661del
ENST00000233146.6:c.646-19_661del
ENST00000406134.5:c.646-19_661del
ENST00000543555.5:c.448-19_463del
ENST00000610696.4:c.646-19_661del
ENST00000613514.4:c.646-19_661del
ENST00000617333.3:c.646-19_661del
ENST00000617938.4:c.646-19_661del
ENST00000621359.2:c.646-19_661del
NM_000251.2:c.646-19_661del , LRG_218t1:c.646-19_661del
NM_001258281.1:c.448-19_463del
XM_005264332.2:c.646-19_661del
XM_011532867.1:c.646-19_661del
XR_939685.1:n.718-19_733del
XM_005264332.4:c.646-19_661del
XM_011532867.2:c.646-19_661del
XR_001738747.2:n.708-19_723del
XR_939685.2:n.708-19_723del
NM_000251.3:c.646-19_661del