BCAT2 branched chain amino acid transaminase 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 22 |
Likely benign | 0 | 70 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 0 | 2 |
Uncertain significance | 0 | 110 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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24 |
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182 |
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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
Search Word
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 |
Search Word
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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | BCAM |
SYNONYM | BCATM |
SYNONYM | BCT2 |
SYNONYM | HVLI |
SYNONYM | PP18 |
MIM | 113530 OMIM |
HGNC | HGNC:977 HGNC |
Ensembl | ENSG00000105552 Ensembl |
AllianceGenome | HGNC:977 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000597011.5 | hg38 | chr19 | 48,795,110 | 48,810,916 | 15,807 |
ENST00000316273.11 | hg38 | chr19 | 48,795,064 | 48,811,029 | 15,966 |
ENST00000598162.5 | hg38 | chr19 | 48,796,259 | 48,811,027 | 14,769 |
ENST00000545387.6 | hg38 | chr19 | 48,795,062 | 48,811,012 | 15,951 |
ENST00000402551.5 | hg38 | chr19 | 48,795,065 | 48,811,027 | 15,963 |
ENST00000599246.5 | hg38 | chr19 | 48,795,865 | 48,811,029 | 15,165 |
ENST00000545387.6 | hg19 | chr19 | 49,298,319 | 49,314,269 | 15,951 |
ENST00000316273.11 | hg19 | chr19 | 49,298,321 | 49,314,286 | 15,966 |
ENST00000402551.5 | hg19 | chr19 | 49,298,322 | 49,314,284 | 15,963 |
ENST00000597011.5 | hg19 | chr19 | 49,298,367 | 49,314,173 | 15,807 |
ENST00000599246.5 | hg19 | chr19 | 49,299,122 | 49,314,286 | 15,165 |
ENST00000598162.5 | hg19 | chr19 | 49,299,516 | 49,314,284 | 14,769 |
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