Canonical Allele Identifier: CA493489878

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848115-G-T
• MyVariant Identifiers: chr16:g.8941972G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848115G>T , CM000678.2:g.8848115G>T	GRCh38
NC_000016.9:g.8941972G>T , CM000678.1:g.8941972G>T	GRCh37
NC_000016.8:g.8849473G>T	NCBI36
NG_009209.1:g.55303G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4199G>T
ENST00000682393.1:c.*258-1254G>T	ENSP00000506774.1:n.*258-1254G>T
ENST00000683094.1:c.*262-1254G>T	ENSP00000508230.1:n.*262-1254G>T
ENST00000683274.1:c.*180-1254G>T	ENSP00000507262.1:n.*180-1254G>T
ENST00000268261.9:c.*290G>T MANE Select	ENSP00000268261.4:n.*290G>T
ENST00000268261.8:c.*290G>T	ENSP00000268261.4:n.*290G>T
ENST00000562025.1:n.565G>T
ENST00000566540.5:c.*653G>T	ENSP00000454284.1:n.*653G>T
ENST00000566604.5:c.*571G>T	ENSP00000456774.1:n.*571G>T
ENST00000567697.1:n.4199G>T
ENST00000570076.5:c.*489G>T	ENSP00000456961.1:n.*489G>T
NM_000303.2:c.*290G>T	NP_000294.1:n.*290G>T
XM_005255374.3:c.*290G>T	XP_005255431.1:n.*290G>T
XM_011522538.1:c.640-6919G>T	XP_011520840.1:n.640-6919G>T
XM_005255374.4:c.*290G>T	XP_005255431.1:n.*290G>T
NM_000303.3:c.*290G>T MANE Select	NP_000294.1:n.*290G>T