Canonical Allele Identifier: CA2206158106

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847806G= , CM000678.2:g.8847806G=	GRCh38
NC_000016.9:g.8941663G= , CM000678.1:g.8941663G=	GRCh37
NC_000016.8:g.8849164G=	NCBI36
NG_009209.1:g.54994G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3890G=
ENST00000682393.1:c.*258-1563G=	ENSP00000506774.1:n.*258-1563G=
ENST00000683094.1:c.*262-1563G=	ENSP00000508230.1:n.*262-1563G=
ENST00000683274.1:c.*180-1563G=	ENSP00000507262.1:n.*180-1563G=
ENST00000683435.1:c.*618G=	ENSP00000508092.1:n.*618G=
ENST00000268261.9:c.722G= MANE Select	ENSP00000268261.4:p.Cys241=
ENST00000268261.8:c.722G=	ENSP00000268261.4:p.Cys241=
ENST00000562025.1:n.256G=
ENST00000562318.5:c.*444G=	ENSP00000454395.1:n.*444G=
ENST00000565221.5:c.*340G=	ENSP00000457932.1:n.*340G=
ENST00000566540.5:c.*344G=	ENSP00000454284.1:n.*344G=
ENST00000566604.5:c.*262G=	ENSP00000456774.1:n.*262G=
ENST00000566983.5:c.641G=	ENSP00000457956.1:p.Cys214=
ENST00000567697.1:n.3890G=
ENST00000569958.5:c.449G=	ENSP00000456302.1:p.Cys150=
ENST00000570076.5:c.*180G=	ENSP00000456961.1:n.*180G=
NM_000303.2:c.722G=	NP_000294.1:p.Cys241=
XM_005255374.3:c.473G=	XP_005255431.1:p.Cys158=
XM_011522538.1:c.640-7228G=	XP_011520840.1:n.640-7228G=
XM_005255374.4:c.473G=	XP_005255431.1:p.Cys158=
NM_000303.3:c.722G= MANE Select	NP_000294.1:p.Cys241=