Canonical Allele Identifier: CA2206128135
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797701T= , CM000678.2:g.8797701T= GRCh38
NC_000016.9:g.8891558T= , CM000678.1:g.8891558T= GRCh37
NC_000016.8:g.8799059T= NCBI36
NG_009209.1:g.4889T=
NG_033146.1:g.4948A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4098T= ENSP00000457956.1:n.-15-4098T=