Canonical Allele Identifier: CA2631646255

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848085-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848085A>G , CM000678.2:g.8848085A>G	GRCh38
NC_000016.9:g.8941942A>G , CM000678.1:g.8941942A>G	GRCh37
NC_000016.8:g.8849443A>G	NCBI36
NG_009209.1:g.55273A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4169A>G
ENST00000682393.1:c.*258-1284A>G	ENSP00000506774.1:n.*258-1284A>G
ENST00000683094.1:c.*262-1284A>G	ENSP00000508230.1:n.*262-1284A>G
ENST00000683274.1:c.*180-1284A>G	ENSP00000507262.1:n.*180-1284A>G
ENST00000268261.9:c.*260A>G MANE Select	ENSP00000268261.4:n.*260A>G
ENST00000268261.8:c.*260A>G	ENSP00000268261.4:n.*260A>G
ENST00000562025.1:n.535A>G
ENST00000566540.5:c.*623A>G	ENSP00000454284.1:n.*623A>G
ENST00000566604.5:c.*541A>G	ENSP00000456774.1:n.*541A>G
ENST00000567697.1:n.4169A>G
ENST00000570076.5:c.*459A>G	ENSP00000456961.1:n.*459A>G
NM_000303.2:c.*260A>G	NP_000294.1:n.*260A>G
XM_005255374.3:c.*260A>G	XP_005255431.1:n.*260A>G
XM_011522538.1:c.640-6949A>G	XP_011520840.1:n.640-6949A>G
XM_005255374.4:c.*260A>G	XP_005255431.1:n.*260A>G
NM_000303.3:c.*260A>G MANE Select	NP_000294.1:n.*260A>G