Canonical Allele Identifier: CA2206136739

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8813057A= , CM000678.2:g.8813057A=	GRCh38
NC_000016.9:g.8906914A= , CM000678.1:g.8906914A=	GRCh37
NC_000016.8:g.8814415A=	NCBI36
NG_009209.1:g.20245A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.590A= MANE Select	NP_000294.1:p.Glu197=
ENST00000268261.9:c.590A= MANE Select	ENSP00000268261.4:p.Glu197=
NM_000303.2:c.590A=	NP_000294.1:p.Glu197=
ENST00000268261.8:c.590A=	ENSP00000268261.4:p.Glu197=
ENST00000562318.5:c.*312A=	ENSP00000454395.1:n.*312A=
ENST00000564069.1:c.557A=
ENST00000565221.5:c.*208A=	ENSP00000457932.1:n.*208A=
ENST00000566540.5:c.*212A=	ENSP00000454284.1:n.*212A=
ENST00000566604.5:c.*130A=	ENSP00000456774.1:n.*130A=
ENST00000566983.5:c.509A=	ENSP00000457956.1:p.Glu170=
ENST00000567697.1:n.3758A=
ENST00000567697.2:n.3758A=
ENST00000569958.5:c.317A=	ENSP00000456302.1:p.Glu106=
ENST00000570076.5:c.*48A=	ENSP00000456961.1:n.*48A=
ENST00000570134.5:c.*212A=	ENSP00000456275.1:n.*212A=
ENST00000682008.1:c.590A=	ENSP00000507849.1:p.Glu197=
ENST00000682393.1:c.*208A=	ENSP00000506774.1:n.*208A=
ENST00000683094.1:c.*212A=	ENSP00000508230.1:n.*212A=
ENST00000683274.1:c.*130A=	ENSP00000507262.1:n.*130A=
ENST00000683435.1:c.*486A=	ENSP00000508092.1:n.*486A=
XM_005255372.3:c.590A=	XP_005255429.1:p.Glu197=
XM_005255373.3:c.341A=	XP_005255430.1:p.Glu114=
XM_005255374.3:c.341A=	XP_005255431.1:p.Glu114=
XM_005255374.4:c.341A=	XP_005255431.1:p.Glu114=
XM_011522538.1:c.590A=	XP_011520840.1:p.Glu197=
XM_011522539.1:c.215A=	XP_011520841.1:p.Glu72=