HEBP2 heme binding protein 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 36 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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36 |
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2 |
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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | C6ORF34B |
SYNONYM | C6orf34 |
SYNONYM | PP23 |
SYNONYM | SOUL |
MIM | 605825 OMIM |
HGNC | HGNC:15716 HGNC |
Ensembl | ENSG00000051620 Ensembl |
AllianceGenome | HGNC:15716 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000448741.5 | hg38 | chr6 | 138,403,531 | 138,413,173 | 9,643 |
ENST00000367697.7 | hg38 | chr6 | 138,404,247 | 138,413,173 | 8,927 |
ENST00000607197.6 | hg38 | chr6 | 138,404,223 | 138,422,197 | 17,975 |
ENST00000448741.5 | hg19 | chr6 | 138,724,668 | 138,734,310 | 9,643 |
ENST00000607197.6 | hg19 | chr6 | 138,725,360 | 138,743,334 | 17,975 |
ENST00000367697.7 | hg19 | chr6 | 138,725,384 | 138,734,310 | 8,927 |
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