Canonical Allele Identifier: CA2206158096

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847794C= , CM000678.2:g.8847794C=	GRCh38
NC_000016.9:g.8941651C= , CM000678.1:g.8941651C=	GRCh37
NC_000016.8:g.8849152C=	NCBI36
NG_009209.1:g.54982C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3878C=
ENST00000682393.1:c.*258-1575C=	ENSP00000506774.1:n.*258-1575C=
ENST00000683094.1:c.*262-1575C=	ENSP00000508230.1:n.*262-1575C=
ENST00000683274.1:c.*180-1575C=	ENSP00000507262.1:n.*180-1575C=
ENST00000683435.1:c.*606C=	ENSP00000508092.1:n.*606C=
ENST00000268261.9:c.710C= MANE Select	ENSP00000268261.4:p.Thr237=
ENST00000268261.8:c.710C=	ENSP00000268261.4:p.Thr237=
ENST00000562025.1:n.244C=
ENST00000562318.5:c.*432C=	ENSP00000454395.1:n.*432C=
ENST00000565221.5:c.*328C=	ENSP00000457932.1:n.*328C=
ENST00000566540.5:c.*332C=	ENSP00000454284.1:n.*332C=
ENST00000566604.5:c.*250C=	ENSP00000456774.1:n.*250C=
ENST00000566983.5:c.629C=	ENSP00000457956.1:p.Thr210=
ENST00000567697.1:n.3878C=
ENST00000569958.5:c.437C=	ENSP00000456302.1:p.Thr146=
ENST00000570076.5:c.*168C=	ENSP00000456961.1:n.*168C=
NM_000303.2:c.710C=	NP_000294.1:p.Thr237=
XM_005255374.3:c.461C=	XP_005255431.1:p.Thr154=
XM_011522538.1:c.640-7240C=	XP_011520840.1:n.640-7240C=
XM_005255374.4:c.461C=	XP_005255431.1:p.Thr154=
NM_000303.3:c.710C= MANE Select	NP_000294.1:p.Thr237=