Canonical Allele Identifier: CA2206158288

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848067C= , CM000678.2:g.8848067C=	GRCh38
NC_000016.9:g.8941924C= , CM000678.1:g.8941924C=	GRCh37
NC_000016.8:g.8849425C=	NCBI36
NG_009209.1:g.55255C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4151C=
ENST00000682393.1:c.*258-1302C=	ENSP00000506774.1:n.*258-1302C=
ENST00000683094.1:c.*262-1302C=	ENSP00000508230.1:n.*262-1302C=
ENST00000683274.1:c.*180-1302C=	ENSP00000507262.1:n.*180-1302C=
ENST00000268261.9:c.*242C= MANE Select	ENSP00000268261.4:n.*242C=
ENST00000268261.8:c.*242C=	ENSP00000268261.4:n.*242C=
ENST00000562025.1:n.517C=
ENST00000566540.5:c.*605C=	ENSP00000454284.1:n.*605C=
ENST00000566604.5:c.*523C=	ENSP00000456774.1:n.*523C=
ENST00000567697.1:n.4151C=
ENST00000570076.5:c.*441C=	ENSP00000456961.1:n.*441C=
NM_000303.2:c.*242C=	NP_000294.1:n.*242C=
XM_005255374.3:c.*242C=	XP_005255431.1:n.*242C=
XM_011522538.1:c.640-6967C=	XP_011520840.1:n.640-6967C=
XM_005255374.4:c.*242C=	XP_005255431.1:n.*242C=
NM_000303.3:c.*242C= MANE Select	NP_000294.1:n.*242C=