Canonical Allele Identifier: CA394689492

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847761C>T , CM000678.2:g.8847761C>T	GRCh38
NC_000016.9:g.8941618C>T , CM000678.1:g.8941618C>T	GRCh37
NC_000016.8:g.8849119C>T	NCBI36
NG_009209.1:g.54949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3845C>T
ENST00000682393.1:c.*258-1608C>T	ENSP00000506774.1:n.*258-1608C>T
ENST00000683094.1:c.*262-1608C>T	ENSP00000508230.1:n.*262-1608C>T
ENST00000683274.1:c.*180-1608C>T	ENSP00000507262.1:n.*180-1608C>T
ENST00000683435.1:c.*573C>T	ENSP00000508092.1:n.*573C>T
ENST00000268261.9:c.677C>T MANE Select	ENSP00000268261.4:p.Thr226Ile
ENST00000268261.8:c.677C>T	ENSP00000268261.4:p.Thr226Ile
ENST00000562025.1:n.211C>T
ENST00000562318.5:c.*399C>T	ENSP00000454395.1:n.*399C>T
ENST00000565221.5:c.*295C>T	ENSP00000457932.1:n.*295C>T
ENST00000566540.5:c.*299C>T	ENSP00000454284.1:n.*299C>T
ENST00000566604.5:c.*217C>T	ENSP00000456774.1:n.*217C>T
ENST00000566983.5:c.596C>T	ENSP00000457956.1:p.Thr199Ile
ENST00000567697.1:n.3845C>T
ENST00000569958.5:c.404C>T	ENSP00000456302.1:p.Thr135Ile
ENST00000570076.5:c.*135C>T	ENSP00000456961.1:n.*135C>T
NM_000303.2:c.677C>T	NP_000294.1:p.Thr226Ile
XM_005255374.3:c.428C>T	XP_005255431.1:p.Thr143Ile
XM_011522538.1:c.640-7273C>T	XP_011520840.1:n.640-7273C>T
XM_005255374.4:c.428C>T	XP_005255431.1:p.Thr143Ile
NM_000303.3:c.677C>T MANE Select	NP_000294.1:p.Thr226Ile