ALAS2 5'-aminolevulinate synthase 2

Go to:

Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
Genome browser

Information

Symbol: ALAS2
Type: protein-coding
Description: 5'-aminolevulinate synthase 2
Entrez Gene ID: 212
Genome: hg19
Position: chrX:55,035,488-55,057,410
Genome: hg38
Position: chrX:55,009,055-55,030,977
MIM: 301300 OMIM
HGNC: HGNC:397 HGNC
Ensembl: ENSG00000158578 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	7	50
Likely pathogenic	2	28
Benign	0	78
Likely benign	0	174
Conflicting classifications of pathogenicity	0	48
not provided	6	0
Uncertain significance	0	164

Ranking

	ClinVar
	0
	0
	100
	334
	30

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	ALAS-E
SYNONYM	ALASE
SYNONYM	ANH1
SYNONYM	ASB
SYNONYM	SIDBA1
SYNONYM	XLDPP
SYNONYM	XLEPP
SYNONYM	XLSA
MIM	301300 OMIM
HGNC	HGNC:397 HGNC
Ensembl	ENSG00000158578 Ensembl
AllianceGenome	HGNC:397

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000650242.1	hg38	chrX	55,009,055	55,030,977	21,923
ENST00000335854.8	hg38	chrX	55,009,089	55,030,977	21,889
ENST00000396198.7	hg38	chrX	55,009,055	55,030,977	21,923
ENST00000396198.7	hg19	chrX	55,035,488	55,057,410	21,923
ENST00000650242.1	hg19	chrX	55,035,488	55,057,410	21,923
ENST00000335854.8	hg19	chrX	55,035,522	55,057,410	21,889

Genome browser