Canonical Allele Identifier: CA2206158098

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847796C= , CM000678.2:g.8847796C=	GRCh38
NC_000016.9:g.8941653C= , CM000678.1:g.8941653C=	GRCh37
NC_000016.8:g.8849154C=	NCBI36
NG_009209.1:g.54984C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3880C=
ENST00000682393.1:c.*258-1573C=	ENSP00000506774.1:n.*258-1573C=
ENST00000683094.1:c.*262-1573C=	ENSP00000508230.1:n.*262-1573C=
ENST00000683274.1:c.*180-1573C=	ENSP00000507262.1:n.*180-1573C=
ENST00000683435.1:c.*608C=	ENSP00000508092.1:n.*608C=
ENST00000268261.9:c.712C= MANE Select	ENSP00000268261.4:p.Arg238=
ENST00000268261.8:c.712C=	ENSP00000268261.4:p.Arg238=
ENST00000562025.1:n.246C=
ENST00000562318.5:c.*434C=	ENSP00000454395.1:n.*434C=
ENST00000565221.5:c.*330C=	ENSP00000457932.1:n.*330C=
ENST00000566540.5:c.*334C=	ENSP00000454284.1:n.*334C=
ENST00000566604.5:c.*252C=	ENSP00000456774.1:n.*252C=
ENST00000566983.5:c.631C=	ENSP00000457956.1:p.Arg211=
ENST00000567697.1:n.3880C=
ENST00000569958.5:c.439C=	ENSP00000456302.1:p.Arg147=
ENST00000570076.5:c.*170C=	ENSP00000456961.1:n.*170C=
NM_000303.2:c.712C=	NP_000294.1:p.Arg238=
XM_005255374.3:c.463C=	XP_005255431.1:p.Arg155=
XM_011522538.1:c.640-7238C=	XP_011520840.1:n.640-7238C=
XM_005255374.4:c.463C=	XP_005255431.1:p.Arg155=
NM_000303.3:c.712C= MANE Select	NP_000294.1:p.Arg238=