cerebral cavernous malformation 2 [Source:HGNC Symbol;Acc:21708]
C7orf22, MGC4607, OSM
Chromosome 7: 45,067,271-45,116,030 forward strand.
This transcript has 8 exons, is annotated with 4 domains and features, is associated with 21497 variant alleles and maps to 407 oligo probes.
This transcript is a product of gene ENSG00000136280.11 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000381112.3 | CCM2-201 | 2471 | 465aa | ENSP00000370503.3 | Protein coding | CCDS34630 | Q9BSQ5 | NM_001029835.2 | Ensembl Canonical, GENCODE basic, |
ENST00000475551.1 | CCM2-002 | 2471 | 438aa | ENSP00000417180.1 | Protein coding | - | - | GENCODE basic, | |
ENST00000258781.6 | CCM2-001 | 1894 | 444aa | ENSP00000258781.6 | Protein coding | CCDS5500 | Q9BSQ5 | NM_031443.3 | GENCODE basic, |
ENST00000541586.1 | CCM2-202 | 1719 | 386aa | ENSP00000444725.1 | Protein coding | CCDS55109 | Q9BSQ5 | NM_001167934.1 | GENCODE basic, |
ENST00000544363.1 | CCM2-203 | 1620 | 353aa | ENSP00000438035.1 | Protein coding | CCDS55108 | Q9BSQ5 | NM_001167935.1 | GENCODE basic, |
ENST00000474617.1 | CCM2-016 | 1532 | 347aa | ENSP00000419474.1 | Protein coding | C9JUH3 | - | GENCODE basic, | |
ENST00000480382.1 | CCM2-014 | 406 | 135aa | ENSP00000418763.1 | Protein coding | - | - | CDS 5' and 3' incomplete, | |
ENST00000488727.1 | CCM2-010 | 1719 | 271aa | ENSP00000417251.1 | Nonsense mediated decay | E9PEC4 | - | - | |
ENST00000461377.1 | CCM2-003 | 1983 | No protein | - | Processed transcript | - | - | - | |
ENST00000482714.1 | CCM2-006 | 1459 | No protein | - | Processed transcript | - | - | - | |
ENST00000472223.1 | CCM2-007 | 981 | No protein | - | Processed transcript | - | - | - | |
ENST00000478582.1 | CCM2-012 | 937 | No protein | - | Processed transcript | - | - | - | |
ENST00000478169.1 | CCM2-011 | 542 | No protein | - | Processed transcript | - | - | - | |
ENST00000476594.1 | CCM2-013 | 533 | No protein | - | Processed transcript | - | - | - | |
ENST00000481194.1 | CCM2-004 | 5304 | No protein | - | Retained intron | - | - | - | |
ENST00000477605.1 | CCM2-005 | 2050 | No protein | - | Retained intron | - | - | - | |
ENST00000480658.1 | CCM2-008 | 1136 | No protein | - | Retained intron | - | - | - | |
ENST00000492883.1 | CCM2-009 | 1061 | No protein | - | Retained intron | - | - | - | |
ENST00000470837.1 | CCM2-015 | 549 | No protein | - | Retained intron | - | - | - |