Canonical Allele Identifier: CA2206158239

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848011A= , CM000678.2:g.8848011A=	GRCh38
NC_000016.9:g.8941868A= , CM000678.1:g.8941868A=	GRCh37
NC_000016.8:g.8849369A=	NCBI36
NG_009209.1:g.55199A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4095A=
ENST00000682393.1:c.*258-1358A=	ENSP00000506774.1:n.*258-1358A=
ENST00000683094.1:c.*262-1358A=	ENSP00000508230.1:n.*262-1358A=
ENST00000683274.1:c.*180-1358A=	ENSP00000507262.1:n.*180-1358A=
ENST00000268261.9:c.*186A= MANE Select	ENSP00000268261.4:n.*186A=
ENST00000268261.8:c.*186A=	ENSP00000268261.4:n.*186A=
ENST00000562025.1:n.461A=
ENST00000562318.5:c.*649A=	ENSP00000454395.1:n.*649A=
ENST00000565221.5:c.*545A=	ENSP00000457932.1:n.*545A=
ENST00000566540.5:c.*549A=	ENSP00000454284.1:n.*549A=
ENST00000566604.5:c.*467A=	ENSP00000456774.1:n.*467A=
ENST00000567697.1:n.4095A=
ENST00000569958.5:c.*186A=	ENSP00000456302.1:n.*186A=
ENST00000570076.5:c.*385A=	ENSP00000456961.1:n.*385A=
NM_000303.2:c.*186A=	NP_000294.1:n.*186A=
XM_005255374.3:c.*186A=	XP_005255431.1:n.*186A=
XM_011522538.1:c.640-7023A=	XP_011520840.1:n.640-7023A=
XM_005255374.4:c.*186A=	XP_005255431.1:n.*186A=
NM_000303.3:c.*186A= MANE Select	NP_000294.1:n.*186A=