Canonical Allele Identifier: CA2206158320
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8848091C= , CM000678.2:g.8848091C= GRCh38
NC_000016.9:g.8941948C= , CM000678.1:g.8941948C= GRCh37
NC_000016.8:g.8849449C= NCBI36
NG_009209.1:g.55279C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.4175C=
ENST00000682393.1:c.*258-1278C= ENSP00000506774.1:n.*258-1278C=
ENST00000683094.1:c.*262-1278C= ENSP00000508230.1:n.*262-1278C=
ENST00000683274.1:c.*180-1278C= ENSP00000507262.1:n.*180-1278C=
ENST00000268261.9:c.*266C= MANE Select ENSP00000268261.4:n.*266C=
ENST00000268261.8:c.*266C= ENSP00000268261.4:n.*266C=
ENST00000562025.1:n.541C=
ENST00000566540.5:c.*629C= ENSP00000454284.1:n.*629C=
ENST00000566604.5:c.*547C= ENSP00000456774.1:n.*547C=
ENST00000567697.1:n.4175C=
ENST00000570076.5:c.*465C= ENSP00000456961.1:n.*465C=
NM_000303.2:c.*266C= NP_000294.1:n.*266C=
XM_005255374.3:c.*266C= XP_005255431.1:n.*266C=
XM_011522538.1:c.640-6943C= XP_011520840.1:n.640-6943C=
XM_005255374.4:c.*266C= XP_005255431.1:n.*266C=
NM_000303.3:c.*266C= MANE Select NP_000294.1:n.*266C=