Canonical Allele Identifier: CA2805787351
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797666A>G , CM000678.2:g.8797666A>G GRCh38
NC_000016.9:g.8891523A>G , CM000678.1:g.8891523A>G GRCh37
NC_000016.8:g.8799024A>G NCBI36
NG_009209.1:g.4854A>G
NG_033146.1:g.4983T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4133A>G ENSP00000457956.1:n.-15-4133A>G