Gene: ALS2 ENSG00000003393

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

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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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000457679.2	ALS2-201	3242	576aa	ENSP00000394823.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B3KPJ0	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.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	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.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		-	-	-

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Gene: ALS2 ENSG00000003393

Summary