Description
phosphomannomutase 2 [Source:HGNC Symbol;Acc:9115]
Gene Synonyms
CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2
Location
Chromosome 16: 8,891,699-8,905,524 forward strand.
About this transcript
This transcript has 6 exons, is annotated with 5 domains and features, is associated with 7956 variant alleles and maps to 111 oligo probes.
Gene
This transcript is a product of gene ENSG00000140650.7 Show transcript tableHide transcript table
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000268261.4 | PMM2-001 | 2313 | 246aa | ENSP00000268261.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10536 | B7Z419 H3BV55 O15305 | NM_000303.2 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000539622.1 | PMM2-202 | 931 | 163aa | ENSP00000445879.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7Z419 F5H0W0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000566983.1 | PMM2-018 | 907 | 219aa | ENSP00000457956.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7Z419 H3BV55 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000537352.1 | PMM2-201 | 793 | 121aa | ENSP00000438359.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7Z419 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000569958.1 | PMM2-015 | 698 | 155aa | ENSP00000456302.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BRM0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000566540.1 | PMM2-004 | 1557 | 66aa | ENSP00000454284.1 | Nonsense mediated decay | H3BM92 | - | - | |
| ENST00000570076.1 | PMM2-005 | 1002 | 90aa | ENSP00000456961.1 | Nonsense mediated decay | H3BT06 | - | - | |
| ENST00000566604.1 | PMM2-002 | 986 | 119aa | ENSP00000456774.1 | Nonsense mediated decay | B7Z6R0 | - | - | |
| ENST00000562318.1 | PMM2-003 | 931 | 66aa | ENSP00000454395.1 | Nonsense mediated decay | H3BM92 | - | - | |
| ENST00000565221.1 | PMM2-006 | 793 | 70aa | ENSP00000457932.1 | Nonsense mediated decay | H3BV34 | - | - | |
| ENST00000570134.1 | PMM2-016 | 573 | 66aa | ENSP00000456275.1 | Nonsense mediated decay | H3BM92 | - | - | |
| ENST00000564069.1 | PMM2-014 | 567 | 142aa | ENSP00000455320.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000568602.1 | PMM2-011 | 550 | 91aa | ENSP00000455066.1 | Nonsense mediated decay | H3BNY9 | - | - | |
| ENST00000565896.1 | PMM2-012 | 514 | 65aa | ENSP00000456024.1 | Nonsense mediated decay | H3BR08 | - | - | |
| ENST00000565837.1 | PMM2-019 | 625 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000562025.1 | PMM2-017 | 569 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000567697.1 | PMM2-007 | 5409 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000564030.1 | PMM2-008 | 1036 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000562448.1 | PMM2-013 | 583 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000566196.1 | PMM2-010 | 531 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |