Canonical Allele Identifier: CA2206128129
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797694G= , CM000678.2:g.8797694G= GRCh38
NC_000016.9:g.8891551G= , CM000678.1:g.8891551G= GRCh37
NC_000016.8:g.8799052G= NCBI36
NG_009209.1:g.4882G=
NG_033146.1:g.4955C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4105G= ENSP00000457956.1:n.-15-4105G=