Canonical Allele Identifier: CA2206135999

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811660T= , CM000678.2:g.8811660T=	GRCh38
NC_000016.9:g.8905517T= , CM000678.1:g.8905517T=	GRCh37
NC_000016.8:g.8813018T=	NCBI36
NG_009209.1:g.18848T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.470T= MANE Select	NP_000294.1:p.Phe157=
ENST00000268261.9:c.470T= MANE Select	ENSP00000268261.4:p.Phe157=
NM_000303.2:c.470T=	NP_000294.1:p.Phe157=
ENST00000268261.8:c.470T=	ENSP00000268261.4:p.Phe157=
ENST00000562318.5:c.*192T=	ENSP00000454395.1:n.*192T=
ENST00000564069.1:c.437T=
ENST00000565221.5:c.*88T=	ENSP00000457932.1:n.*88T=
ENST00000565896.5:c.*268T=	ENSP00000456024.1:n.*268T=
ENST00000566540.5:c.*92T=	ENSP00000454284.1:n.*92T=
ENST00000566604.5:c.*10T=	ENSP00000456774.1:n.*10T=
ENST00000566983.5:c.389T=	ENSP00000457956.1:p.Phe130=
ENST00000567697.1:n.3638T=
ENST00000567697.2:n.3638T=
ENST00000569958.5:c.197T=	ENSP00000456302.1:p.Phe66=
ENST00000570076.5:c.201T=	ENSP00000456961.1:p.Val67=
ENST00000570134.5:c.*92T=	ENSP00000456275.1:n.*92T=
ENST00000682008.1:c.470T=	ENSP00000507849.1:p.Phe157=
ENST00000682393.1:c.*88T=	ENSP00000506774.1:n.*88T=
ENST00000683094.1:c.*92T=	ENSP00000508230.1:n.*92T=
ENST00000683274.1:c.*10T=	ENSP00000507262.1:n.*10T=
ENST00000683435.1:c.*366T=	ENSP00000508092.1:n.*366T=
XM_005255372.3:c.470T=	XP_005255429.1:p.Phe157=
XM_005255373.3:c.221T=	XP_005255430.1:p.Phe74=
XM_005255374.3:c.221T=	XP_005255431.1:p.Phe74=
XM_005255374.4:c.221T=	XP_005255431.1:p.Phe74=
XM_011522538.1:c.470T=	XP_011520840.1:p.Phe157=
XM_011522539.1:c.95T=	XP_011520841.1:p.Phe32=