Canonical Allele Identifier: CA022005
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 184476
ClinVar RCV Id: RCV000163738 RCV003316006
dbSNP Id: rs577322036
gnomAD v2: 2-47630183-C-T
gnomAD v3: 2-47403044-C-T
gnomAD v4: 2-47403044-C-T
MyVariant Identifiers: chr2:g.47630183C>T (hg19) chr2:g.47403044C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403044C>T , CM000664.2:g.47403044C>T GRCh38
NC_000002.11:g.47630183C>T , CM000664.1:g.47630183C>T GRCh37
NC_000002.10:g.47483687C>T NCBI36
NG_007110.2:g.4921C>T , LRG_218:g.4921C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-148C>T ENSP00000233146.2:n.-148C>T
Search 100 bp 5'
Search 100 bp 3'