CRYBA2 crystallin beta A2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 18 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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26 |
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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
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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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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 | CTRCT42 |
MIM | 600836 OMIM |
HGNC | HGNC:2395 HGNC |
Ensembl | ENSG00000163499 Ensembl |
AllianceGenome | HGNC:2395 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000392096.6 | hg38 | chr2 | 218,990,189 | 218,993,421 | 3,233 |
ENST00000295728.7 | hg38 | chr2 | 218,990,190 | 218,993,422 | 3,233 |
ENST00000392096.6 | hg19 | chr2 | 219,854,911 | 219,858,143 | 3,233 |
ENST00000295728.7 | hg19 | chr2 | 219,854,912 | 219,858,144 | 3,233 |
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