Canonical Allele Identifier: CA2532141717
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8848060-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8848060C>A , CM000678.2:g.8848060C>A GRCh38
NC_000016.9:g.8941917C>A , CM000678.1:g.8941917C>A GRCh37
NC_000016.8:g.8849418C>A NCBI36
NG_009209.1:g.55248C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.4144C>A
ENST00000682393.1:c.*258-1309C>A ENSP00000506774.1:n.*258-1309C>A
ENST00000683094.1:c.*262-1309C>A ENSP00000508230.1:n.*262-1309C>A
ENST00000683274.1:c.*180-1309C>A ENSP00000507262.1:n.*180-1309C>A
ENST00000268261.9:c.*235C>A MANE Select ENSP00000268261.4:n.*235C>A
ENST00000268261.8:c.*235C>A ENSP00000268261.4:n.*235C>A
ENST00000562025.1:n.510C>A
ENST00000566540.5:c.*598C>A ENSP00000454284.1:n.*598C>A
ENST00000566604.5:c.*516C>A ENSP00000456774.1:n.*516C>A
ENST00000567697.1:n.4144C>A
ENST00000570076.5:c.*434C>A ENSP00000456961.1:n.*434C>A
NM_000303.2:c.*235C>A NP_000294.1:n.*235C>A
XM_005255374.3:c.*235C>A XP_005255431.1:n.*235C>A
XM_011522538.1:c.640-6974C>A XP_011520840.1:n.640-6974C>A
XM_005255374.4:c.*235C>A XP_005255431.1:n.*235C>A
NM_000303.3:c.*235C>A MANE Select NP_000294.1:n.*235C>A