Canonical Allele Identifier: CA2206135752

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811173G= , CM000678.2:g.8811173G=	GRCh38
NC_000016.9:g.8905030G= , CM000678.1:g.8905030G=	GRCh37
NC_000016.8:g.8812531G=	NCBI36
NG_009209.1:g.18361G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.442G= MANE Select	NP_000294.1:p.Asp148=
ENST00000268261.9:c.442G= MANE Select	ENSP00000268261.4:p.Asp148=
NM_000303.2:c.442G=	NP_000294.1:p.Asp148=
ENST00000268261.8:c.442G=	ENSP00000268261.4:p.Asp148=
ENST00000562318.5:c.*164G=	ENSP00000454395.1:n.*164G=
ENST00000564069.1:c.413G=
ENST00000565221.5:c.*60G=	ENSP00000457932.1:n.*60G=
ENST00000565896.5:c.*240G=	ENSP00000456024.1:n.*240G=
ENST00000566540.5:c.*70-465G=	ENSP00000454284.1:n.*70-465G=
ENST00000566604.5:c.348-465G=	ENSP00000456774.1:n.348-465G=
ENST00000566983.5:c.361G=	ENSP00000457956.1:p.Asp121=
ENST00000567697.1:n.3610G=
ENST00000567697.2:n.3610G=
ENST00000569958.5:c.179-469G=	ENSP00000456302.1:n.179-469G=
ENST00000570076.5:c.179-465G=	ENSP00000456961.1:n.179-465G=
ENST00000570134.5:c.*70-465G=	ENSP00000456275.1:n.*70-465G=
ENST00000682008.1:c.442G=	ENSP00000507849.1:p.Asp148=
ENST00000682393.1:c.*60G=	ENSP00000506774.1:n.*60G=
ENST00000683094.1:c.*70-465G=	ENSP00000508230.1:n.*70-465G=
ENST00000683274.1:c.348-465G=	ENSP00000507262.1:n.348-465G=
ENST00000683435.1:c.*344-465G=	ENSP00000508092.1:n.*344-465G=
XM_005255372.3:c.442G=	XP_005255429.1:p.Asp148=
XM_005255373.3:c.193G=	XP_005255430.1:p.Asp65=
XM_005255374.3:c.193G=	XP_005255431.1:p.Asp65=
XM_005255374.4:c.193G=	XP_005255431.1:p.Asp65=
XM_011522538.1:c.442G=	XP_011520840.1:p.Asp148=
XM_011522539.1:c.67G=	XP_011520841.1:p.Asp23=