Canonical Allele Identifier: CA2206136751

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8813087T= , CM000678.2:g.8813087T=	GRCh38
NC_000016.9:g.8906944T= , CM000678.1:g.8906944T=	GRCh37
NC_000016.8:g.8814445T=	NCBI36
NG_009209.1:g.20275T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.620T= MANE Select	NP_000294.1:p.Phe207=
ENST00000268261.9:c.620T= MANE Select	ENSP00000268261.4:p.Phe207=
NM_000303.2:c.620T=	NP_000294.1:p.Phe207=
ENST00000268261.8:c.620T=	ENSP00000268261.4:p.Phe207=
ENST00000562318.5:c.*342T=	ENSP00000454395.1:n.*342T=
ENST00000565221.5:c.*238T=	ENSP00000457932.1:n.*238T=
ENST00000566540.5:c.*242T=	ENSP00000454284.1:n.*242T=
ENST00000566604.5:c.*160T=	ENSP00000456774.1:n.*160T=
ENST00000566983.5:c.539T=	ENSP00000457956.1:p.Phe180=
ENST00000567697.1:n.3788T=
ENST00000567697.2:n.3788T=
ENST00000569958.5:c.347T=	ENSP00000456302.1:p.Phe116=
ENST00000570076.5:c.*78T=	ENSP00000456961.1:n.*78T=
ENST00000570134.5:c.*242T=	ENSP00000456275.1:n.*242T=
ENST00000682008.1:c.620T=	ENSP00000507849.1:p.Phe207=
ENST00000682393.1:c.*238T=	ENSP00000506774.1:n.*238T=
ENST00000683094.1:c.*242T=	ENSP00000508230.1:n.*242T=
ENST00000683274.1:c.*160T=	ENSP00000507262.1:n.*160T=
ENST00000683435.1:c.*516T=	ENSP00000508092.1:n.*516T=
XM_005255372.3:c.620T=	XP_005255429.1:p.Phe207=
XM_005255373.3:c.371T=	XP_005255430.1:p.Phe124=
XM_005255374.3:c.371T=	XP_005255431.1:p.Phe124=
XM_005255374.4:c.371T=	XP_005255431.1:p.Phe124=
XM_011522538.1:c.620T=	XP_011520840.1:p.Phe207=
XM_011522539.1:c.245T=	XP_011520841.1:p.Phe82=