Canonical Allele Identifier: CA2206128141
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs2060586401
gnomAD v4: 16-8797705-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797705C>T , CM000678.2:g.8797705C>T GRCh38
NC_000016.9:g.8891562C>T , CM000678.1:g.8891562C>T GRCh37
NC_000016.8:g.8799063C>T NCBI36
NG_009209.1:g.4893C>T
NG_033146.1:g.4944G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4094C>T ENSP00000457956.1:n.-15-4094C>T
Search 100 bp 5'
Search 100 bp 3'