Canonical Allele Identifier: CA2206158104

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847803T= , CM000678.2:g.8847803T=	GRCh38
NC_000016.9:g.8941660T= , CM000678.1:g.8941660T=	GRCh37
NC_000016.8:g.8849161T=	NCBI36
NG_009209.1:g.54991T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3887T=
ENST00000682393.1:c.*258-1566T=	ENSP00000506774.1:n.*258-1566T=
ENST00000683094.1:c.*262-1566T=	ENSP00000508230.1:n.*262-1566T=
ENST00000683274.1:c.*180-1566T=	ENSP00000507262.1:n.*180-1566T=
ENST00000683435.1:c.*615T=	ENSP00000508092.1:n.*615T=
ENST00000268261.9:c.719T= MANE Select	ENSP00000268261.4:p.Ile240=
ENST00000268261.8:c.719T=	ENSP00000268261.4:p.Ile240=
ENST00000562025.1:n.253T=
ENST00000562318.5:c.*441T=	ENSP00000454395.1:n.*441T=
ENST00000565221.5:c.*337T=	ENSP00000457932.1:n.*337T=
ENST00000566540.5:c.*341T=	ENSP00000454284.1:n.*341T=
ENST00000566604.5:c.*259T=	ENSP00000456774.1:n.*259T=
ENST00000566983.5:c.638T=	ENSP00000457956.1:p.Ile213=
ENST00000567697.1:n.3887T=
ENST00000569958.5:c.446T=	ENSP00000456302.1:p.Ile149=
ENST00000570076.5:c.*177T=	ENSP00000456961.1:n.*177T=
NM_000303.2:c.719T=	NP_000294.1:p.Ile240=
XM_005255374.3:c.470T=	XP_005255431.1:p.Ile157=
XM_011522538.1:c.640-7231T=	XP_011520840.1:n.640-7231T=
XM_005255374.4:c.470T=	XP_005255431.1:p.Ile157=
NM_000303.3:c.719T= MANE Select	NP_000294.1:p.Ile240=