Canonical Allele Identifier: CA46686753
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs886970498
gnomAD v2: 2-48010027-C-A
gnomAD v3: 2-47782888-C-A
gnomAD v4: 2-47782888-C-A
MyVariant Identifiers: chr2:g.48010027C>A (hg19) chr2:g.47782888C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47782888C>A , CM000664.2:g.47782888C>A GRCh38
NC_000002.11:g.48010027C>A , CM000664.1:g.48010027C>A GRCh37
NC_000002.10:g.47863531C>A NCBI36
NG_007111.1:g.4742C>A , LRG_219:g.4742C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-8039C>A ENSP00000498629.1:n.-37-8039C>A
ENST00000606499.1:c.-37-8039C>A ENSP00000475605.1:n.-37-8039C>A
Search 100 bp 5'
Search 100 bp 3'