Canonical Allele Identifier: CA2206136763

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8813107G= , CM000678.2:g.8813107G=	GRCh38
NC_000016.9:g.8906964G= , CM000678.1:g.8906964G=	GRCh37
NC_000016.8:g.8814465G=	NCBI36
NG_009209.1:g.20295G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.639+1G= MANE Select	NP_000294.1:n.639+1G=
ENST00000268261.9:c.639+1G= MANE Select	ENSP00000268261.4:n.639+1G=
NM_000303.2:c.639+1G=	NP_000294.1:n.639+1G=
ENST00000268261.8:c.639+1G=	ENSP00000268261.4:n.639+1G=
ENST00000562318.5:c.*361+1G=	ENSP00000454395.1:n.*361+1G=
ENST00000565221.5:c.*257+1G=	ENSP00000457932.1:n.*257+1G=
ENST00000566540.5:c.*261+1G=	ENSP00000454284.1:n.*261+1G=
ENST00000566604.5:c.*179+1G=	ENSP00000456774.1:n.*179+1G=
ENST00000566983.5:c.558+1G=	ENSP00000457956.1:n.558+1G=
ENST00000567697.1:n.3807+1G=
ENST00000567697.2:n.3807+1G=
ENST00000569958.5:c.366+1G=	ENSP00000456302.1:n.366+1G=
ENST00000570076.5:c.*97+1G=	ENSP00000456961.1:n.*97+1G=
ENST00000570134.5:c.*261+1G=	ENSP00000456275.1:n.*261+1G=
ENST00000682008.1:c.640G=	ENSP00000507849.1:p.Val214=
ENST00000682393.1:c.*257+1G=	ENSP00000506774.1:n.*257+1G=
ENST00000683094.1:c.*261+1G=	ENSP00000508230.1:n.*261+1G=
ENST00000683274.1:c.*179+1G=	ENSP00000507262.1:n.*179+1G=
ENST00000683435.1:c.*535+1G=	ENSP00000508092.1:n.*535+1G=
XM_005255372.3:c.639+1G=	XP_005255429.1:n.639+1G=
XM_005255373.3:c.390+1G=	XP_005255430.1:n.390+1G=
XM_005255374.3:c.390+1G=	XP_005255431.1:n.390+1G=
XM_005255374.4:c.390+1G=	XP_005255431.1:n.390+1G=
XM_011522538.1:c.639+1G=	XP_011520840.1:n.639+1G=
XM_011522539.1:c.264+1G=	XP_011520841.1:n.264+1G=