Canonical Allele Identifier: CA974429365

Gene: PMM2

Linked Data

• gnomAD v3: 16-8848066-A-AC
• gnomAD v4: 16-8848066-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848071dup , CM000678.2:g.8848071dup	GRCh38
NC_000016.9:g.8941928dup , CM000678.1:g.8941928dup	GRCh37
NC_000016.8:g.8849429dup	NCBI36
NG_009209.1:g.55259dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4155dup
ENST00000682393.1:c.*258-1298dup	ENSP00000506774.1:n.*258-1298dup
ENST00000683094.1:c.*262-1298dup	ENSP00000508230.1:n.*262-1298dup
ENST00000683274.1:c.*180-1298dup	ENSP00000507262.1:n.*180-1298dup
ENST00000268261.9:c.*246dup MANE Select	ENSP00000268261.4:n.*246dup
ENST00000268261.8:c.*246dup	ENSP00000268261.4:n.*246dup
ENST00000562025.1:n.521dup
ENST00000566540.5:c.*609dup	ENSP00000454284.1:n.*609dup
ENST00000566604.5:c.*527dup	ENSP00000456774.1:n.*527dup
ENST00000567697.1:n.4155dup
ENST00000570076.5:c.*445dup	ENSP00000456961.1:n.*445dup
NM_000303.2:c.*246dup	NP_000294.1:n.*246dup
XM_005255374.3:c.*246dup	XP_005255431.1:n.*246dup
XM_011522538.1:c.640-6963dup	XP_011520840.1:n.640-6963dup
XM_005255374.4:c.*246dup	XP_005255431.1:n.*246dup
NM_000303.3:c.*246dup MANE Select	NP_000294.1:n.*246dup