Description
amyotrophic lateral sclerosis 2 (juvenile) [Source:HGNC Symbol;Acc:443]
Gene Synonyms
ALS2CR6, ALSJ, IAHSP, KIAA1563, PLSJ
Location
Chromosome 2: 202,565,277-202,645,912 reverse strand.
GRCh37:CM000664.1
About this gene
This gene has 13 transcripts (splice variants), 6 paralogues and is associated with 8 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000264276.6 | ALS2-001 | 6644 | 1657aa | ENSP00000264276.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS42800 | A8K4R4 J3KQ33 J3KQ43 Q96Q42 | NM_020919.3 | 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, |
| ENST00000457679.2 | ALS2-201 | 3242 | 576aa | ENSP00000394823.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B3KPJ0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000467448.1 | ALS2-002 | 2674 | 396aa | ENSP00000429223.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46492 | J3KQ33 J3KQ43 Q96Q42 | NM_001135745.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000409632.2 | ALS2-009 | 571 | 139aa | ENSP00000386384.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KQ33 J3KQ43 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000410052.1 | ALS2-006 | 559 | 106aa | ENSP00000386948.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KQ43 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000439495.1 | ALS2-005 | 3242 | 585aa | ENSP00000403832.1 | Nonsense mediated decay | B3KPJ0 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000496244.1 | ALS2-007 | 768 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000489440.1 | ALS2-012 | 727 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000494017.1 | ALS2-011 | 537 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000483703.1 | ALS2-010 | 505 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000462747.1 | ALS2-008 | 491 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000482891.1 | ALS2-004 | 4895 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000482789.1 | ALS2-003 | 2981 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
