Canonical Allele Identifier: CA277481230

Gene: PMM2

Linked Data

• dbSNP Id: rs377441458
• gnomAD v3: 16-8797686-A-G
• gnomAD v4: 16-8797686-A-G
• MyVariant Identifiers: chr16:g.8891543A>G (hg19) ; chr16:g.8797686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797686A>G , CM000678.2:g.8797686A>G	GRCh38
NC_000016.9:g.8891543A>G , CM000678.1:g.8891543A>G	GRCh37
NC_000016.8:g.8799044A>G	NCBI36
NG_009209.1:g.4874A>G
NG_033146.1:g.4963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000566983.5:c.-15-4113A>G	ENSP00000457956.1:n.-15-4113A>G