Canonical Allele Identifier: CA2580066653
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1772466
ClinVar RCV Id: RCV002392028
dbSNP Id: rs1198937159
gnomAD v4: 2-47403050-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403050C>T , CM000664.2:g.47403050C>T GRCh38
NC_000002.11:g.47630189C>T , CM000664.1:g.47630189C>T GRCh37
NC_000002.10:g.47483693C>T NCBI36
NG_007110.2:g.4927C>T , LRG_218:g.4927C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-142C>T ENSP00000233146.2:n.-142C>T
Search 100 bp 5'
Search 100 bp 3'