Canonical Allele Identifier: CA394689681

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847802A>T , CM000678.2:g.8847802A>T	GRCh38
NC_000016.9:g.8941659A>T , CM000678.1:g.8941659A>T	GRCh37
NC_000016.8:g.8849160A>T	NCBI36
NG_009209.1:g.54990A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3886A>T
ENST00000682393.1:c.*258-1567A>T	ENSP00000506774.1:n.*258-1567A>T
ENST00000683094.1:c.*262-1567A>T	ENSP00000508230.1:n.*262-1567A>T
ENST00000683274.1:c.*180-1567A>T	ENSP00000507262.1:n.*180-1567A>T
ENST00000683435.1:c.*614A>T	ENSP00000508092.1:n.*614A>T
ENST00000268261.9:c.718A>T MANE Select	ENSP00000268261.4:p.Ile240Phe
ENST00000268261.8:c.718A>T	ENSP00000268261.4:p.Ile240Phe
ENST00000562025.1:n.252A>T
ENST00000562318.5:c.*440A>T	ENSP00000454395.1:n.*440A>T
ENST00000565221.5:c.*336A>T	ENSP00000457932.1:n.*336A>T
ENST00000566540.5:c.*340A>T	ENSP00000454284.1:n.*340A>T
ENST00000566604.5:c.*258A>T	ENSP00000456774.1:n.*258A>T
ENST00000566983.5:c.637A>T	ENSP00000457956.1:p.Ile213Phe
ENST00000567697.1:n.3886A>T
ENST00000569958.5:c.445A>T	ENSP00000456302.1:p.Ile149Phe
ENST00000570076.5:c.*176A>T	ENSP00000456961.1:n.*176A>T
NM_000303.2:c.718A>T	NP_000294.1:p.Ile240Phe
XM_005255374.3:c.469A>T	XP_005255431.1:p.Ile157Phe
XM_011522538.1:c.640-7232A>T	XP_011520840.1:n.640-7232A>T
XM_005255374.4:c.469A>T	XP_005255431.1:p.Ile157Phe
NM_000303.3:c.718A>T MANE Select	NP_000294.1:p.Ile240Phe