Canonical Allele Identifier: CA2631641733
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797812-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797812C>G , CM000678.2:g.8797812C>G GRCh38
NC_000016.9:g.8891669C>G , CM000678.1:g.8891669C>G GRCh37
NC_000016.8:g.8799170C>G NCBI36
NG_009209.1:g.5000C>G
NG_033146.1:g.4837G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-71C>G ENSP00000507849.1:n.-71C>G
ENST00000683435.1:c.-71C>G ENSP00000508092.1:n.-71C>G
ENST00000566983.5:c.-15-3987C>G ENSP00000457956.1:n.-15-3987C>G