Canonical Allele Identifier: CA2206130605

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8801867C= , CM000678.2:g.8801867C=	GRCh38
NC_000016.9:g.8895724C= , CM000678.1:g.8895724C=	GRCh37
NC_000016.8:g.8803225C=	NCBI36
NG_009209.1:g.9055C=
NG_033146.1:g.782G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.135C=	ENSP00000507849.1:p.Gly45=
ENST00000682393.1:c.135C=	ENSP00000506774.1:p.Gly45=
ENST00000683094.1:c.135C=	ENSP00000508230.1:p.Gly45=
ENST00000683274.1:c.135C=	ENSP00000507262.1:p.Gly45=
ENST00000683435.1:c.135C=	ENSP00000508092.1:p.Gly45=
ENST00000268261.9:c.135C= MANE Select	ENSP00000268261.4:p.Gly45=
ENST00000268261.8:c.135C=	ENSP00000268261.4:p.Gly45=
ENST00000562318.5:c.135C=	ENSP00000454395.1:p.Gly45=
ENST00000562448.1:n.176C=
ENST00000564030.5:n.197C=
ENST00000564069.1:c.106C=
ENST00000565221.5:c.135C=	ENSP00000457932.1:p.Gly45=
ENST00000565896.5:c.135C=	ENSP00000456024.1:p.Gly45=
ENST00000566196.5:n.179C=
ENST00000566540.5:c.135C=	ENSP00000454284.1:p.Gly45=
ENST00000566604.5:c.135C=	ENSP00000456774.1:p.Gly45=
ENST00000566983.5:c.54C=	ENSP00000457956.1:p.Gly18=
ENST00000568602.5:c.135C=	ENSP00000455066.1:p.Gly45=
ENST00000569958.5:c.135C=	ENSP00000456302.1:p.Gly45=
ENST00000570076.5:c.135C=	ENSP00000456961.1:p.Gly45=
ENST00000570134.5:c.135C=	ENSP00000456275.1:p.Gly45=
NM_000303.2:c.135C=	NP_000294.1:p.Gly45=
XM_005255372.3:c.135C=	XP_005255429.1:p.Gly45=
XM_005255373.3:c.-38C=	XP_005255430.1:n.-38C=
XM_005255374.3:c.-38C=	XP_005255431.1:n.-38C=
XM_011522538.1:c.135C=	XP_011520840.1:p.Gly45=
XM_011522539.1:c.-72C=	XP_011520841.1:n.-72C=
XM_005255374.4:c.-38C=	XP_005255431.1:n.-38C=
NM_000303.3:c.135C= MANE Select	NP_000294.1:p.Gly45=