Canonical Allele Identifier: CA2206158199

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847945T= , CM000678.2:g.8847945T=	GRCh38
NC_000016.9:g.8941802T= , CM000678.1:g.8941802T=	GRCh37
NC_000016.8:g.8849303T=	NCBI36
NG_009209.1:g.55133T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4029T=
ENST00000682393.1:c.*258-1424T=	ENSP00000506774.1:n.*258-1424T=
ENST00000683094.1:c.*262-1424T=	ENSP00000508230.1:n.*262-1424T=
ENST00000683274.1:c.*180-1424T=	ENSP00000507262.1:n.*180-1424T=
ENST00000683435.1:c.*757T=	ENSP00000508092.1:n.*757T=
ENST00000268261.9:c.*120T= MANE Select	ENSP00000268261.4:n.*120T=
ENST00000268261.8:c.*120T=	ENSP00000268261.4:n.*120T=
ENST00000562025.1:n.395T=
ENST00000562318.5:c.*583T=	ENSP00000454395.1:n.*583T=
ENST00000565221.5:c.*479T=	ENSP00000457932.1:n.*479T=
ENST00000566540.5:c.*483T=	ENSP00000454284.1:n.*483T=
ENST00000566604.5:c.*401T=	ENSP00000456774.1:n.*401T=
ENST00000567697.1:n.4029T=
ENST00000569958.5:c.*120T=	ENSP00000456302.1:n.*120T=
ENST00000570076.5:c.*319T=	ENSP00000456961.1:n.*319T=
NM_000303.2:c.*120T=	NP_000294.1:n.*120T=
XM_005255374.3:c.*120T=	XP_005255431.1:n.*120T=
XM_011522538.1:c.640-7089T=	XP_011520840.1:n.640-7089T=
XM_005255374.4:c.*120T=	XP_005255431.1:n.*120T=
NM_000303.3:c.*120T= MANE Select	NP_000294.1:n.*120T=