Canonical Allele Identifier: CA2206158115

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847821C= , CM000678.2:g.8847821C=	GRCh38
NC_000016.9:g.8941678C= , CM000678.1:g.8941678C=	GRCh37
NC_000016.8:g.8849179C=	NCBI36
NG_009209.1:g.55009C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3905C=
ENST00000682393.1:c.*258-1548C=	ENSP00000506774.1:n.*258-1548C=
ENST00000683094.1:c.*262-1548C=	ENSP00000508230.1:n.*262-1548C=
ENST00000683274.1:c.*180-1548C=	ENSP00000507262.1:n.*180-1548C=
ENST00000683435.1:c.*633C=	ENSP00000508092.1:n.*633C=
ENST00000268261.9:c.737C= MANE Select	ENSP00000268261.4:p.Ser246=
ENST00000268261.8:c.737C=	ENSP00000268261.4:p.Ser246=
ENST00000562025.1:n.271C=
ENST00000562318.5:c.*459C=	ENSP00000454395.1:n.*459C=
ENST00000565221.5:c.*355C=	ENSP00000457932.1:n.*355C=
ENST00000566540.5:c.*359C=	ENSP00000454284.1:n.*359C=
ENST00000566604.5:c.*277C=	ENSP00000456774.1:n.*277C=
ENST00000566983.5:c.656C=	ENSP00000457956.1:p.Ser219=
ENST00000567697.1:n.3905C=
ENST00000569958.5:c.464C=	ENSP00000456302.1:p.Ser155=
ENST00000570076.5:c.*195C=	ENSP00000456961.1:n.*195C=
NM_000303.2:c.737C=	NP_000294.1:p.Ser246=
XM_005255374.3:c.488C=	XP_005255431.1:p.Ser163=
XM_011522538.1:c.640-7213C=	XP_011520840.1:n.640-7213C=
XM_005255374.4:c.488C=	XP_005255431.1:p.Ser163=
NM_000303.3:c.737C= MANE Select	NP_000294.1:p.Ser246=