Canonical Allele Identifier: CA2206158197

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847940C= , CM000678.2:g.8847940C=	GRCh38
NC_000016.9:g.8941797C= , CM000678.1:g.8941797C=	GRCh37
NC_000016.8:g.8849298C=	NCBI36
NG_009209.1:g.55128C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4024C=
ENST00000682393.1:c.*258-1429C=	ENSP00000506774.1:n.*258-1429C=
ENST00000683094.1:c.*262-1429C=	ENSP00000508230.1:n.*262-1429C=
ENST00000683274.1:c.*180-1429C=	ENSP00000507262.1:n.*180-1429C=
ENST00000683435.1:c.*752C=	ENSP00000508092.1:n.*752C=
ENST00000268261.9:c.*115C= MANE Select	ENSP00000268261.4:n.*115C=
ENST00000268261.8:c.*115C=	ENSP00000268261.4:n.*115C=
ENST00000562025.1:n.390C=
ENST00000562318.5:c.*578C=	ENSP00000454395.1:n.*578C=
ENST00000565221.5:c.*474C=	ENSP00000457932.1:n.*474C=
ENST00000566540.5:c.*478C=	ENSP00000454284.1:n.*478C=
ENST00000566604.5:c.*396C=	ENSP00000456774.1:n.*396C=
ENST00000567697.1:n.4024C=
ENST00000569958.5:c.*115C=	ENSP00000456302.1:n.*115C=
ENST00000570076.5:c.*314C=	ENSP00000456961.1:n.*314C=
NM_000303.2:c.*115C=	NP_000294.1:n.*115C=
XM_005255374.3:c.*115C=	XP_005255431.1:n.*115C=
XM_011522538.1:c.640-7094C=	XP_011520840.1:n.640-7094C=
XM_005255374.4:c.*115C=	XP_005255431.1:n.*115C=
NM_000303.3:c.*115C= MANE Select	NP_000294.1:n.*115C=