Canonical Allele Identifier: CA725520827

Gene: PMM2

Linked Data

• dbSNP Id: rs1409104484
• gnomAD v4: 16-8797696-C-G
• MyVariant Identifiers: chr16:g.8891553C>G (hg19) ; chr16:g.8797696C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797696C>G , CM000678.2:g.8797696C>G	GRCh38
NC_000016.9:g.8891553C>G , CM000678.1:g.8891553C>G	GRCh37
NC_000016.8:g.8799054C>G	NCBI36
NG_009209.1:g.4884C>G
NG_033146.1:g.4953G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000566983.5:c.-15-4103C>G	ENSP00000457956.1:n.-15-4103C>G