Canonical Allele Identifier: CA2206158097

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847795G= , CM000678.2:g.8847795G=	GRCh38
NC_000016.9:g.8941652G= , CM000678.1:g.8941652G=	GRCh37
NC_000016.8:g.8849153G=	NCBI36
NG_009209.1:g.54983G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3879G=
ENST00000682393.1:c.*258-1574G=	ENSP00000506774.1:n.*258-1574G=
ENST00000683094.1:c.*262-1574G=	ENSP00000508230.1:n.*262-1574G=
ENST00000683274.1:c.*180-1574G=	ENSP00000507262.1:n.*180-1574G=
ENST00000683435.1:c.*607G=	ENSP00000508092.1:n.*607G=
ENST00000268261.9:c.711G= MANE Select	ENSP00000268261.4:p.Thr237=
ENST00000268261.8:c.711G=	ENSP00000268261.4:p.Thr237=
ENST00000562025.1:n.245G=
ENST00000562318.5:c.*433G=	ENSP00000454395.1:n.*433G=
ENST00000565221.5:c.*329G=	ENSP00000457932.1:n.*329G=
ENST00000566540.5:c.*333G=	ENSP00000454284.1:n.*333G=
ENST00000566604.5:c.*251G=	ENSP00000456774.1:n.*251G=
ENST00000566983.5:c.630G=	ENSP00000457956.1:p.Thr210=
ENST00000567697.1:n.3879G=
ENST00000569958.5:c.438G=	ENSP00000456302.1:p.Thr146=
ENST00000570076.5:c.*169G=	ENSP00000456961.1:n.*169G=
NM_000303.2:c.711G=	NP_000294.1:p.Thr237=
XM_005255374.3:c.462G=	XP_005255431.1:p.Thr154=
XM_011522538.1:c.640-7239G=	XP_011520840.1:n.640-7239G=
XM_005255374.4:c.462G=	XP_005255431.1:p.Thr154=
NM_000303.3:c.711G= MANE Select	NP_000294.1:p.Thr237=