Canonical Allele Identifier: CA254234

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847753C>G , CM000678.2:g.8847753C>G	GRCh38
NC_000016.9:g.8941610C>G , CM000678.1:g.8941610C>G	GRCh37
NC_000016.8:g.8849111C>G	NCBI36
NG_009209.1:g.54941C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000303.3:c.669C>G MANE Select	NP_000294.1:p.Asp223Glu
ENST00000268261.9:c.669C>G MANE Select	ENSP00000268261.4:p.Asp223Glu
NM_000303.2:c.669C>G	NP_000294.1:p.Asp223Glu
ENST00000268261.8:c.669C>G	ENSP00000268261.4:p.Asp223Glu
ENST00000562025.1:n.203C>G
ENST00000562318.5:c.*391C>G	ENSP00000454395.1:n.*391C>G
ENST00000565221.5:c.*287C>G	ENSP00000457932.1:n.*287C>G
ENST00000566540.5:c.*291C>G	ENSP00000454284.1:n.*291C>G
ENST00000566604.5:c.*209C>G	ENSP00000456774.1:n.*209C>G
ENST00000566983.5:c.588C>G	ENSP00000457956.1:p.Asp196Glu
ENST00000567697.1:n.3837C>G
ENST00000567697.2:n.3837C>G
ENST00000569958.5:c.396C>G	ENSP00000456302.1:p.Asp132Glu
ENST00000570076.5:c.*127C>G	ENSP00000456961.1:n.*127C>G
ENST00000682393.1:c.*258-1616C>G	ENSP00000506774.1:n.*258-1616C>G
ENST00000683094.1:c.*262-1616C>G	ENSP00000508230.1:n.*262-1616C>G
ENST00000683274.1:c.*180-1616C>G	ENSP00000507262.1:n.*180-1616C>G
ENST00000683435.1:c.*565C>G	ENSP00000508092.1:n.*565C>G
XM_005255374.3:c.420C>G	XP_005255431.1:p.Asp140Glu
XM_005255374.4:c.420C>G	XP_005255431.1:p.Asp140Glu
XM_011522538.1:c.640-7281C>G	XP_011520840.1:n.640-7281C>G