Canonical Allele Identifier: CA2805787678

Gene: PMM2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848036A>G , CM000678.2:g.8848036A>G	GRCh38
NC_000016.9:g.8941893A>G , CM000678.1:g.8941893A>G	GRCh37
NC_000016.8:g.8849394A>G	NCBI36
NG_009209.1:g.55224A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4120A>G
ENST00000682393.1:c.*258-1333A>G	ENSP00000506774.1:n.*258-1333A>G
ENST00000683094.1:c.*262-1333A>G	ENSP00000508230.1:n.*262-1333A>G
ENST00000683274.1:c.*180-1333A>G	ENSP00000507262.1:n.*180-1333A>G
ENST00000268261.9:c.*211A>G MANE Select	ENSP00000268261.4:n.*211A>G
ENST00000268261.8:c.*211A>G	ENSP00000268261.4:n.*211A>G
ENST00000562025.1:n.486A>G
ENST00000562318.5:c.*674A>G	ENSP00000454395.1:n.*674A>G
ENST00000566540.5:c.*574A>G	ENSP00000454284.1:n.*574A>G
ENST00000566604.5:c.*492A>G	ENSP00000456774.1:n.*492A>G
ENST00000567697.1:n.4120A>G
ENST00000569958.5:c.*211A>G	ENSP00000456302.1:n.*211A>G
ENST00000570076.5:c.*410A>G	ENSP00000456961.1:n.*410A>G
NM_000303.2:c.*211A>G	NP_000294.1:n.*211A>G
XM_005255374.3:c.*211A>G	XP_005255431.1:n.*211A>G
XM_011522538.1:c.640-6998A>G	XP_011520840.1:n.640-6998A>G
XM_005255374.4:c.*211A>G	XP_005255431.1:n.*211A>G
NM_000303.3:c.*211A>G MANE Select	NP_000294.1:n.*211A>G