Canonical Allele Identifier: CA2580066648
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1778119
ClinVar RCV Id: RCV002414631

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403024T>C , CM000664.2:g.47403024T>C GRCh38
NC_000002.11:g.47630163T>C , CM000664.1:g.47630163T>C GRCh37
NC_000002.10:g.47483667T>C NCBI36
NG_007110.2:g.4901T>C , LRG_218:g.4901T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-168T>C ENSP00000233146.2:n.-168T>C