ELAC2 elaC ribonuclease Z 2

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

Symbol: ELAC2
Type: protein-coding
Description: elaC ribonuclease Z 2
Entrez Gene ID: 60528
Genome: hg19
Position: chr17:12,894,929-12,921,344
Genome: hg38
Position: chr17:12,991,612-13,018,027
MIM: 605367 OMIM
HGNC: HGNC:14198 HGNC
Ensembl: ENSG00000006744 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	62
Likely pathogenic	0	50
Benign	0	180
Likely benign	0	876
Conflicting classifications of pathogenicity	0	36
no classification for the single variant	0	2
not provided	2	0
Uncertain significance	1	770

Ranking

	ClinVar
	0
	0
	220
	1,682
	8

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

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Target data	:	MGeND data only
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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

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Target data	:	MGeND data only
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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

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Target data	:	MGeND data only
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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	COXPD17
SYNONYM	ELC2
SYNONYM	HPC2
MIM	605367 OMIM
HGNC	HGNC:14198 HGNC
Ensembl	ENSG00000006744 Ensembl
AllianceGenome	HGNC:14198

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000395962.6	hg38	chr17	12,992,392	13,018,021	25,630
ENST00000426905.7	hg38	chr17	12,992,560	13,017,999	25,440
ENST00000338034.9	hg38	chr17	12,991,612	13,018,027	26,416
ENST00000578071.1	hg38	chr17	13,011,724	13,017,966	6,243
ENST00000338034.9	hg19	chr17	12,894,929	12,921,344	26,416
ENST00000395962.6	hg19	chr17	12,895,709	12,921,338	25,630
ENST00000426905.7	hg19	chr17	12,895,877	12,921,316	25,440
ENST00000578071.1	hg19	chr17	12,915,041	12,921,283	6,243

Key	Value
strand	-
UniProt	OG
start	12,894,928
Gene Symbol	ELAC2
Entrez GeneId	60,528
Chr Band	17p11.2
end	12,921,380
chr	chr17

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