Canonical Allele Identifier: CA620726911

Gene: PMM2

Linked Data

• dbSNP Id: rs1220464161
• gnomAD v2: 16-8891537-G-A
• gnomAD v3: 16-8797680-G-A
• gnomAD v4: 16-8797680-G-A
• MyVariant Identifiers: chr16:g.8891537G>A (hg19) ; chr16:g.8797680G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797680G>A , CM000678.2:g.8797680G>A	GRCh38
NC_000016.9:g.8891537G>A , CM000678.1:g.8891537G>A	GRCh37
NC_000016.8:g.8799038G>A	NCBI36
NG_009209.1:g.4868G>A
NG_033146.1:g.4969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000566983.5:c.-15-4119G>A	ENSP00000457956.1:n.-15-4119G>A