Canonical Allele Identifier: CA620726907

Gene: PMM2

Linked Data

• dbSNP Id: rs1453148578
• gnomAD v2: 16-8891520-C-G
• MyVariant Identifiers: chr16:g.8891520C>G (hg19) ; chr16:g.8797663C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797663C>G , CM000678.2:g.8797663C>G	GRCh38
NC_000016.9:g.8891520C>G , CM000678.1:g.8891520C>G	GRCh37
NC_000016.8:g.8799021C>G	NCBI36
NG_009209.1:g.4851C>G
NG_033146.1:g.4986G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000566983.5:c.-15-4136C>G	ENSP00000457956.1:n.-15-4136C>G