Canonical Allele Identifier: CA2530762890

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848083-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848083C>A , CM000678.2:g.8848083C>A	GRCh38
NC_000016.9:g.8941940C>A , CM000678.1:g.8941940C>A	GRCh37
NC_000016.8:g.8849441C>A	NCBI36
NG_009209.1:g.55271C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4167C>A
ENST00000682393.1:c.*258-1286C>A	ENSP00000506774.1:n.*258-1286C>A
ENST00000683094.1:c.*262-1286C>A	ENSP00000508230.1:n.*262-1286C>A
ENST00000683274.1:c.*180-1286C>A	ENSP00000507262.1:n.*180-1286C>A
ENST00000268261.9:c.*258C>A MANE Select	ENSP00000268261.4:n.*258C>A
ENST00000268261.8:c.*258C>A	ENSP00000268261.4:n.*258C>A
ENST00000562025.1:n.533C>A
ENST00000566540.5:c.*621C>A	ENSP00000454284.1:n.*621C>A
ENST00000566604.5:c.*539C>A	ENSP00000456774.1:n.*539C>A
ENST00000567697.1:n.4167C>A
ENST00000570076.5:c.*457C>A	ENSP00000456961.1:n.*457C>A
NM_000303.2:c.*258C>A	NP_000294.1:n.*258C>A
XM_005255374.3:c.*258C>A	XP_005255431.1:n.*258C>A
XM_011522538.1:c.640-6951C>A	XP_011520840.1:n.640-6951C>A
XM_005255374.4:c.*258C>A	XP_005255431.1:n.*258C>A
NM_000303.3:c.*258C>A MANE Select	NP_000294.1:n.*258C>A