Canonical Allele Identifier: CA2631641584
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797730-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797730A>G , CM000678.2:g.8797730A>G GRCh38
NC_000016.9:g.8891587A>G , CM000678.1:g.8891587A>G GRCh37
NC_000016.8:g.8799088A>G NCBI36
NG_009209.1:g.4918A>G
NG_033146.1:g.4919T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-153A>G ENSP00000507849.1:n.-153A>G
ENST00000566983.5:c.-15-4069A>G ENSP00000457956.1:n.-15-4069A>G