Canonical Allele Identifier: CA2206158297

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848075C= , CM000678.2:g.8848075C=	GRCh38
NC_000016.9:g.8941932C= , CM000678.1:g.8941932C=	GRCh37
NC_000016.8:g.8849433C=	NCBI36
NG_009209.1:g.55263C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4159C=
ENST00000682393.1:c.*258-1294C=	ENSP00000506774.1:n.*258-1294C=
ENST00000683094.1:c.*262-1294C=	ENSP00000508230.1:n.*262-1294C=
ENST00000683274.1:c.*180-1294C=	ENSP00000507262.1:n.*180-1294C=
ENST00000268261.9:c.*250C= MANE Select	ENSP00000268261.4:n.*250C=
ENST00000268261.8:c.*250C=	ENSP00000268261.4:n.*250C=
ENST00000562025.1:n.525C=
ENST00000566540.5:c.*613C=	ENSP00000454284.1:n.*613C=
ENST00000566604.5:c.*531C=	ENSP00000456774.1:n.*531C=
ENST00000567697.1:n.4159C=
ENST00000570076.5:c.*449C=	ENSP00000456961.1:n.*449C=
NM_000303.2:c.*250C=	NP_000294.1:n.*250C=
XM_005255374.3:c.*250C=	XP_005255431.1:n.*250C=
XM_011522538.1:c.640-6959C=	XP_011520840.1:n.640-6959C=
XM_005255374.4:c.*250C=	XP_005255431.1:n.*250C=
NM_000303.3:c.*250C= MANE Select	NP_000294.1:n.*250C=