Canonical Allele Identifier: CA394689431

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847746-T-G
• MyVariant Identifiers: chr16:g.8941603T>G (hg19) ; chr16:g.8847746T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847746T>G , CM000678.2:g.8847746T>G	GRCh38
NC_000016.9:g.8941603T>G , CM000678.1:g.8941603T>G	GRCh37
NC_000016.8:g.8849104T>G	NCBI36
NG_009209.1:g.54934T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3830T>G
ENST00000682393.1:c.*258-1623T>G	ENSP00000506774.1:n.*258-1623T>G
ENST00000683094.1:c.*262-1623T>G	ENSP00000508230.1:n.*262-1623T>G
ENST00000683274.1:c.*180-1623T>G	ENSP00000507262.1:n.*180-1623T>G
ENST00000683435.1:c.*558T>G	ENSP00000508092.1:n.*558T>G
ENST00000268261.9:c.662T>G MANE Select	ENSP00000268261.4:p.Phe221Cys
ENST00000268261.8:c.662T>G	ENSP00000268261.4:p.Phe221Cys
ENST00000562025.1:n.196T>G
ENST00000562318.5:c.*384T>G	ENSP00000454395.1:n.*384T>G
ENST00000565221.5:c.*280T>G	ENSP00000457932.1:n.*280T>G
ENST00000566540.5:c.*284T>G	ENSP00000454284.1:n.*284T>G
ENST00000566604.5:c.*202T>G	ENSP00000456774.1:n.*202T>G
ENST00000566983.5:c.581T>G	ENSP00000457956.1:p.Phe194Cys
ENST00000567697.1:n.3830T>G
ENST00000569958.5:c.389T>G	ENSP00000456302.1:p.Phe130Cys
ENST00000570076.5:c.*120T>G	ENSP00000456961.1:n.*120T>G
NM_000303.2:c.662T>G	NP_000294.1:p.Phe221Cys
XM_005255374.3:c.413T>G	XP_005255431.1:p.Phe138Cys
XM_011522538.1:c.640-7288T>G	XP_011520840.1:n.640-7288T>G
XM_005255374.4:c.413T>G	XP_005255431.1:p.Phe138Cys
NM_000303.3:c.662T>G MANE Select	NP_000294.1:p.Phe221Cys