Description
collagen, type VI, alpha 2 [Source:HGNC Symbol;Acc:2212]
Gene Synonyms
PP3610
Location
Chromosome 21: 47,518,011-47,552,763 forward strand.
GRCh37:CM000683.1
About this gene
This gene has 9 transcripts (splice variants), 9 paralogues and is associated with 8 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000300527.4 | COL6A2-001 | 3461 | 1019aa | ENSP00000300527.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13728 | C9JH44 P12110 | NM_001849.3 | 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, |
| ENST00000310645.5 | COL6A2-201 | 3446 | 828aa | ENSP00000312529.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13730 | C9JH44 P12110 | NM_058175.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000409416.1 | COL6A2-003 | 3430 | 828aa | ENSP00000387115.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13730 | C9JH44 P12110 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000357838.4 | COL6A2-202 | 3153 | 918aa | ENSP00000350497.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13729 | C9JH44 P12110 | NM_058174.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000397763.1 | COL6A2-002 | 3101 | 918aa | ENSP00000380870.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13729 | C9JH44 P12110 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000436769.1 | COL6A2-004 | 919 | 180aa | ENSP00000390418.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JH44 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000413758.1 | COL6A2-005 | 750 | 250aa | ENSP00000395751.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C0M5 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000460886.1 | COL6A2-006 | 306 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000485591.1 | COL6A2-007 | 777 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
