Canonical Allele Identifier: CA2580066592
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1753678
ClinVar RCV Id: RCV002361921

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47412408_47412495del , CM000664.2:g.47412408_47412495del GRCh38
NC_000002.11:g.47639547_47639634del , CM000664.1:g.47639547_47639634del GRCh37
NC_000002.10:g.47493051_47493138del NCBI36
NG_007110.2:g.14285_14372del , LRG_218:g.14285_14372del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.646-6_727del
ENST00000233146.7:c.646-6_727del
ENST00000543555.6:c.448-6_529del
ENST00000644092.1:c.646-6_727del
ENST00000645339.1:c.646-6_727del
ENST00000645506.1:c.646-6_727del
ENST00000646415.1:c.646-6_727del
ENST00000233146.6:c.646-6_727del
ENST00000406134.5:c.646-6_727del
ENST00000543555.5:c.448-6_529del
ENST00000610696.4:c.646-6_727del
ENST00000613514.4:c.646-6_727del
ENST00000617333.3:c.646-6_727del
ENST00000617938.4:c.646-6_727del
ENST00000621359.2:c.646-6_727del
NM_000251.2:c.646-6_727del , LRG_218t1:c.646-6_727del
NM_001258281.1:c.448-6_529del
XM_005264332.2:c.646-6_727del
XM_011532867.1:c.646-6_727del
XR_939685.1:n.718-6_799del
XM_005264332.4:c.646-6_727del
XM_011532867.2:c.646-6_727del
XR_001738747.2:n.708-6_789del
XR_939685.2:n.708-6_789del
NM_000251.3:c.646-6_727del