Canonical Allele Identifier: CA2206128122
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797685T= , CM000678.2:g.8797685T= GRCh38
NC_000016.9:g.8891542T= , CM000678.1:g.8891542T= GRCh37
NC_000016.8:g.8799043T= NCBI36
NG_009209.1:g.4873T=
NG_033146.1:g.4964A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4114T= ENSP00000457956.1:n.-15-4114T=