Canonical Allele Identifier: CA10577897
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 233144
ClinVar RCV Id: RCV000219182
dbSNP Id: rs876660222
gnomAD v4: 2-47403034-G-T
MyVariant Identifiers: chr2:g.47630173G>T (hg19) chr2:g.47403034G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403034G>T , CM000664.2:g.47403034G>T GRCh38
NC_000002.11:g.47630173G>T , CM000664.1:g.47630173G>T GRCh37
NC_000002.10:g.47483677G>T NCBI36
NG_007110.2:g.4911G>T , LRG_218:g.4911G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-158G>T ENSP00000233146.2:n.-158G>T
Search 100 bp 5'
Search 100 bp 3'