Human (GRCh37.p13)
Description

phosphomannomutase 2 [Source:HGNC Symbol;Acc:9115]

Gene Synonyms

CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2

Location

Chromosome 16: 8,882,680-8,943,188 forward strand.

GRCh37:CM000678.1

About this gene

This gene has 20 transcripts (splice variants), 1 paralogue and is associated with 5 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000268261.4PMM2-0012313246aaENSP00000268261.4
 
Protein coding
CCDS10536B7Z419 H3BV55 O15305
NM_000303.2GENCODE basic
ENST00000539622.1PMM2-202931163aaENSP00000445879.1
 
Protein coding
B7Z419 F5H0W0 -GENCODE basic
ENST00000566983.1PMM2-018907219aaENSP00000457956.1
 
Protein coding
B7Z419 H3BV55 -GENCODE basic
ENST00000537352.1PMM2-201793121aaENSP00000438359.1
 
Protein coding
B7Z419 -GENCODE basic
ENST00000569958.1PMM2-015698155aaENSP00000456302.1
 
Protein coding
H3BRM0 -GENCODE basic
ENST00000566540.1PMM2-004155766aaENSP00000454284.1
 
Nonsense mediated decay
H3BM92 --
ENST00000570076.1PMM2-005100290aaENSP00000456961.1
 
Nonsense mediated decay
H3BT06 --
ENST00000566604.1PMM2-002986119aaENSP00000456774.1
 
Nonsense mediated decay
B7Z6R0 --
ENST00000562318.1PMM2-00393166aaENSP00000454395.1
 
Nonsense mediated decay
H3BM92 --
ENST00000565221.1PMM2-00679370aaENSP00000457932.1
 
Nonsense mediated decay
H3BV34 --
ENST00000570134.1PMM2-01657366aaENSP00000456275.1
 
Nonsense mediated decay
H3BM92 --
ENST00000564069.1PMM2-014567142aaENSP00000455320.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000568602.1PMM2-01155091aaENSP00000455066.1
 
Nonsense mediated decay
H3BNY9 --
ENST00000565896.1PMM2-01251465aaENSP00000456024.1
 
Nonsense mediated decay
H3BR08 --
ENST00000565837.1PMM2-019625No protein-
 
Processed transcript
---
ENST00000562025.1PMM2-017569No protein-
 
Processed transcript
---
ENST00000567697.1PMM2-0075409No protein-
 
Retained intron
---
ENST00000564030.1PMM2-0081036No protein-
 
Retained intron
---
ENST00000562448.1PMM2-013583No protein-
 
Retained intron
---
ENST00000566196.1PMM2-010531No protein-
 
Retained intron
---