BEST2 bestrophin 2

Information
Symbol
BEST2
Type
protein-coding
Description
bestrophin 2
Entrez Gene ID
54831
Genome
hg19
Position
chr19:12,862,516-12,869,220
Genome
hg38
Position
chr19:12,751,702-12,758,406
MIM
607335 OMIM
HGNC
HGNC:17107 HGNC
Ensembl
ENSG00000039987 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 40
Ranking
ClinVar
0
0
0
44
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
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
Entry Origin Type Annotation
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
Entry Origin Type Annotation
TypeID
SYNONYM VMD2L1
MIM 607335 OMIM
HGNC HGNC:17107 HGNC
Ensembl ENSG00000039987 Ensembl
AllianceGenome HGNC:17107
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000549706.5 hg38 chr19 12,751,702 12,758,406 6,705
ENST00000553030.6 hg38 chr19 12,751,791 12,758,458 6,668
ENST00000042931.1 hg38 chr19 12,752,593 12,758,455 5,863
ENST00000549706.5 hg19 chr19 12,862,516 12,869,220 6,705
ENST00000553030.6 hg19 chr19 12,862,605 12,869,272 6,668
ENST00000042931.1 hg19 chr19 12,863,407 12,869,269 5,863
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