Canonical Allele Identifier: CA2206158253

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848042T= , CM000678.2:g.8848042T=	GRCh38
NC_000016.9:g.8941899T= , CM000678.1:g.8941899T=	GRCh37
NC_000016.8:g.8849400T=	NCBI36
NG_009209.1:g.55230T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4126T=
ENST00000682393.1:c.*258-1327T=	ENSP00000506774.1:n.*258-1327T=
ENST00000683094.1:c.*262-1327T=	ENSP00000508230.1:n.*262-1327T=
ENST00000683274.1:c.*180-1327T=	ENSP00000507262.1:n.*180-1327T=
ENST00000268261.9:c.*217T= MANE Select	ENSP00000268261.4:n.*217T=
ENST00000268261.8:c.*217T=	ENSP00000268261.4:n.*217T=
ENST00000562025.1:n.492T=
ENST00000562318.5:c.*680T=	ENSP00000454395.1:n.*680T=
ENST00000566540.5:c.*580T=	ENSP00000454284.1:n.*580T=
ENST00000566604.5:c.*498T=	ENSP00000456774.1:n.*498T=
ENST00000567697.1:n.4126T=
ENST00000570076.5:c.*416T=	ENSP00000456961.1:n.*416T=
NM_000303.2:c.*217T=	NP_000294.1:n.*217T=
XM_005255374.3:c.*217T=	XP_005255431.1:n.*217T=
XM_011522538.1:c.640-6992T=	XP_011520840.1:n.640-6992T=
XM_005255374.4:c.*217T=	XP_005255431.1:n.*217T=
NM_000303.3:c.*217T= MANE Select	NP_000294.1:n.*217T=