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 | 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 | - | - | - |