Canonical Allele Identifier: CA493489881

Gene: PMM2

Linked Data

• dbSNP Id: rs868805577
• gnomAD v4: 16-8848116-T-A
• MyVariant Identifiers: chr16:g.8941973T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848116T>A , CM000678.2:g.8848116T>A	GRCh38
NC_000016.9:g.8941973T>A , CM000678.1:g.8941973T>A	GRCh37
NC_000016.8:g.8849474T>A	NCBI36
NG_009209.1:g.55304T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4200T>A
ENST00000682393.1:c.*258-1253T>A	ENSP00000506774.1:n.*258-1253T>A
ENST00000683094.1:c.*262-1253T>A	ENSP00000508230.1:n.*262-1253T>A
ENST00000683274.1:c.*180-1253T>A	ENSP00000507262.1:n.*180-1253T>A
ENST00000268261.9:c.*291T>A MANE Select	ENSP00000268261.4:n.*291T>A
ENST00000268261.8:c.*291T>A	ENSP00000268261.4:n.*291T>A
ENST00000562025.1:n.566T>A
ENST00000566540.5:c.*654T>A	ENSP00000454284.1:n.*654T>A
ENST00000566604.5:c.*572T>A	ENSP00000456774.1:n.*572T>A
ENST00000567697.1:n.4200T>A
ENST00000570076.5:c.*490T>A	ENSP00000456961.1:n.*490T>A
NM_000303.2:c.*291T>A	NP_000294.1:n.*291T>A
XM_005255374.3:c.*291T>A	XP_005255431.1:n.*291T>A
XM_011522538.1:c.640-6918T>A	XP_011520840.1:n.640-6918T>A
XM_005255374.4:c.*291T>A	XP_005255431.1:n.*291T>A
NM_000303.3:c.*291T>A MANE Select	NP_000294.1:n.*291T>A