ACVR2A activin A receptor type 2A

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: ACVR2A
Type: protein-coding
Description: activin A receptor type 2A
Entrez Gene ID: 92
Genome: hg19
Position: chr2:148,602,598-148,688,391
Genome: hg38
Position: chr2:147,845,029-147,930,822
MIM: 102581 OMIM
HGNC: HGNC:173 HGNC
Ensembl: ENSG00000121989 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
not provided	16	0
Uncertain significance	0	22

Ranking

	ClinVar
	0
	0
	0
	22
	0

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

Search Word

Target data	:	MGeND data only
Category	:
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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	ACTRII
SYNONYM	ACVR2
MIM	102581 OMIM
HGNC	HGNC:173 HGNC
Ensembl	ENSG00000121989 Ensembl
AllianceGenome	HGNC:173

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000404590.1	hg38	chr2	147,844,616	147,927,929	83,314
ENST00000241416.12	hg38	chr2	147,845,029	147,930,822	85,794
ENST00000535787.5	hg38	chr2	147,844,517	147,930,826	86,310
ENST00000535787.5	hg19	chr2	148,602,086	148,688,395	86,310
ENST00000404590.1	hg19	chr2	148,602,185	148,685,498	83,314
ENST00000241416.12	hg19	chr2	148,602,598	148,688,391	85,794

Key	Value
strand	+
start	148,602,085
Gene Symbol	ACVR2A
Entrez GeneId	92
Chr Band	2q22.3
end	148,688,395
chr	chr2

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