Gene: ALAS2 ENSG00000158578

Description

aminolevulinate, delta-, synthase 2 [Source:HGNC Symbol;Acc:397]

Gene Synonyms

ALAS-E, ALASE, ANH1, ASB, XLDPP, XLEPP, XLSA

Location

Chromosome X: 55,035,488-55,057,497 reverse strand.

GRCh37:CM000685.1

About this gene

This gene has 8 transcripts (splice variants), 2 paralogues and is associated with 4 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000330807.5	ALAS2-006	2027	587aa	ENSP00000332369.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14366	P22557 Q6QNT2 Q9H366	NM_000032.4	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,
ENST00000396198.3	ALAS2-007	1936	574aa	ENSP00000379501.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS43960	P22557 Q6QNT2 Q9H366	NM_001037968.3	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000335854.4	ALAS2-008	1795	550aa	ENSP00000337131.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS35303	P22557 Q6QNT2 Q9H366	NM_001037967.3	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000455688.1	ALAS2-004	664	221aa	ENSP00000407204.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000498636.1	ALAS2-001	959	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000493869.1	ALAS2-003	658	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000463868.1	ALAS2-002	646	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000477869.1	ALAS2-005	582	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Gene: ALAS2 ENSG00000158578

Summary