GNB2 G protein subunit beta 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 10 |
Likely pathogenic | 0 | 8 |
Benign | 0 | 2 |
Likely benign | 0 | 10 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 50 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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72 |
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4 |
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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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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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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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | HG2C1 |
SYNONYM | SSS4 |
SYNONYM | SSS4; NEDHYDF |
MIM | 139390 OMIM |
HGNC | HGNC:4398 HGNC |
Ensembl | ENSG00000172354 Ensembl |
AllianceGenome | HGNC:4398 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000419828.5 | hg38 | chr7 | 100,673,823 | 100,679,165 | 5,343 |
ENST00000427895.5 | hg38 | chr7 | 100,673,878 | 100,679,145 | 5,268 |
ENST00000424361.5 | hg38 | chr7 | 100,673,749 | 100,679,138 | 5,390 |
ENST00000436220.5 | hg38 | chr7 | 100,673,745 | 100,679,148 | 5,404 |
ENST00000393926.5 | hg38 | chr7 | 100,675,286 | 100,679,174 | 3,889 |
ENST00000393924.1 | hg38 | chr7 | 100,676,138 | 100,679,174 | 3,037 |
ENST00000303210.9 | hg38 | chr7 | 100,673,740 | 100,679,169 | 5,430 |
ENST00000303210.9 | hg19 | chr7 | 100,271,363 | 100,276,792 | 5,430 |
ENST00000436220.5 | hg19 | chr7 | 100,271,368 | 100,276,771 | 5,404 |
ENST00000424361.5 | hg19 | chr7 | 100,271,372 | 100,276,761 | 5,390 |
ENST00000419828.5 | hg19 | chr7 | 100,271,446 | 100,276,788 | 5,343 |
ENST00000427895.5 | hg19 | chr7 | 100,271,501 | 100,276,768 | 5,268 |
ENST00000393926.5 | hg19 | chr7 | 100,272,909 | 100,276,797 | 3,889 |
ENST00000393924.1 | hg19 | chr7 | 100,273,761 | 100,276,797 | 3,037 |
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