Canonical Allele Identifier: CA2206158099

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847797G= , CM000678.2:g.8847797G=	GRCh38
NC_000016.9:g.8941654G= , CM000678.1:g.8941654G=	GRCh37
NC_000016.8:g.8849155G=	NCBI36
NG_009209.1:g.54985G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3881G=
ENST00000682393.1:c.*258-1572G=	ENSP00000506774.1:n.*258-1572G=
ENST00000683094.1:c.*262-1572G=	ENSP00000508230.1:n.*262-1572G=
ENST00000683274.1:c.*180-1572G=	ENSP00000507262.1:n.*180-1572G=
ENST00000683435.1:c.*609G=	ENSP00000508092.1:n.*609G=
ENST00000268261.9:c.713G= MANE Select	ENSP00000268261.4:p.Arg238=
ENST00000268261.8:c.713G=	ENSP00000268261.4:p.Arg238=
ENST00000562025.1:n.247G=
ENST00000562318.5:c.*435G=	ENSP00000454395.1:n.*435G=
ENST00000565221.5:c.*331G=	ENSP00000457932.1:n.*331G=
ENST00000566540.5:c.*335G=	ENSP00000454284.1:n.*335G=
ENST00000566604.5:c.*253G=	ENSP00000456774.1:n.*253G=
ENST00000566983.5:c.632G=	ENSP00000457956.1:p.Arg211=
ENST00000567697.1:n.3881G=
ENST00000569958.5:c.440G=	ENSP00000456302.1:p.Arg147=
ENST00000570076.5:c.*171G=	ENSP00000456961.1:n.*171G=
NM_000303.2:c.713G=	NP_000294.1:p.Arg238=
XM_005255374.3:c.464G=	XP_005255431.1:p.Arg155=
XM_011522538.1:c.640-7237G=	XP_011520840.1:n.640-7237G=
XM_005255374.4:c.464G=	XP_005255431.1:p.Arg155=
NM_000303.3:c.713G= MANE Select	NP_000294.1:p.Arg238=