Canonical Allele Identifier: CA021829
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142000
ClinVar RCV Id: RCV000130770
dbSNP Id: rs587782171
gnomAD v3: 2-47402976-C-G
gnomAD v4: 2-47402976-C-G
MyVariant Identifiers: chr2:g.47630115C>G (hg19) chr2:g.47402976C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47402976C>G , CM000664.2:g.47402976C>G GRCh38
NC_000002.11:g.47630115C>G , CM000664.1:g.47630115C>G GRCh37
NC_000002.10:g.47483619C>G NCBI36
NG_007110.2:g.4853C>G , LRG_218:g.4853C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-216C>G ENSP00000233146.2:n.-216C>G
Search 100 bp 5'
Search 100 bp 3'