Canonical Allele Identifier: CA620726916
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1191382478
gnomAD v2: 16-8891549-C-T
gnomAD v3: 16-8797692-C-T
gnomAD v4: 16-8797692-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797692C>T , CM000678.2:g.8797692C>T GRCh38
NC_000016.9:g.8891549C>T , CM000678.1:g.8891549C>T GRCh37
NC_000016.8:g.8799050C>T NCBI36
NG_009209.1:g.4880C>T
NG_033146.1:g.4957G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4107C>T ENSP00000457956.1:n.-15-4107C>T