Canonical Allele Identifier: CA2206158181

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847915C= , CM000678.2:g.8847915C=	GRCh38
NC_000016.9:g.8941772C= , CM000678.1:g.8941772C=	GRCh37
NC_000016.8:g.8849273C=	NCBI36
NG_009209.1:g.55103C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3999C=
ENST00000682393.1:c.*258-1454C=	ENSP00000506774.1:n.*258-1454C=
ENST00000683094.1:c.*262-1454C=	ENSP00000508230.1:n.*262-1454C=
ENST00000683274.1:c.*180-1454C=	ENSP00000507262.1:n.*180-1454C=
ENST00000683435.1:c.*727C=	ENSP00000508092.1:n.*727C=
ENST00000268261.9:c.*90C= MANE Select	ENSP00000268261.4:n.*90C=
ENST00000268261.8:c.*90C=	ENSP00000268261.4:n.*90C=
ENST00000562025.1:n.365C=
ENST00000562318.5:c.*553C=	ENSP00000454395.1:n.*553C=
ENST00000565221.5:c.*449C=	ENSP00000457932.1:n.*449C=
ENST00000566540.5:c.*453C=	ENSP00000454284.1:n.*453C=
ENST00000566604.5:c.*371C=	ENSP00000456774.1:n.*371C=
ENST00000567697.1:n.3999C=
ENST00000569958.5:c.*90C=	ENSP00000456302.1:n.*90C=
ENST00000570076.5:c.*289C=	ENSP00000456961.1:n.*289C=
NM_000303.2:c.*90C=	NP_000294.1:n.*90C=
XM_005255374.3:c.*90C=	XP_005255431.1:n.*90C=
XM_011522538.1:c.640-7119C=	XP_011520840.1:n.640-7119C=
XM_005255374.4:c.*90C=	XP_005255431.1:n.*90C=
NM_000303.3:c.*90C= MANE Select	NP_000294.1:n.*90C=