Canonical Allele Identifier: CA2206158190

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847931C= , CM000678.2:g.8847931C=	GRCh38
NC_000016.9:g.8941788C= , CM000678.1:g.8941788C=	GRCh37
NC_000016.8:g.8849289C=	NCBI36
NG_009209.1:g.55119C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4015C=
ENST00000682393.1:c.*258-1438C=	ENSP00000506774.1:n.*258-1438C=
ENST00000683094.1:c.*262-1438C=	ENSP00000508230.1:n.*262-1438C=
ENST00000683274.1:c.*180-1438C=	ENSP00000507262.1:n.*180-1438C=
ENST00000683435.1:c.*743C=	ENSP00000508092.1:n.*743C=
ENST00000268261.9:c.*106C= MANE Select	ENSP00000268261.4:n.*106C=
ENST00000268261.8:c.*106C=	ENSP00000268261.4:n.*106C=
ENST00000562025.1:n.381C=
ENST00000562318.5:c.*569C=	ENSP00000454395.1:n.*569C=
ENST00000565221.5:c.*465C=	ENSP00000457932.1:n.*465C=
ENST00000566540.5:c.*469C=	ENSP00000454284.1:n.*469C=
ENST00000566604.5:c.*387C=	ENSP00000456774.1:n.*387C=
ENST00000567697.1:n.4015C=
ENST00000569958.5:c.*106C=	ENSP00000456302.1:n.*106C=
ENST00000570076.5:c.*305C=	ENSP00000456961.1:n.*305C=
NM_000303.2:c.*106C=	NP_000294.1:n.*106C=
XM_005255374.3:c.*106C=	XP_005255431.1:n.*106C=
XM_011522538.1:c.640-7103C=	XP_011520840.1:n.640-7103C=
XM_005255374.4:c.*106C=	XP_005255431.1:n.*106C=
NM_000303.3:c.*106C= MANE Select	NP_000294.1:n.*106C=