GH2 growth hormone 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 12 |
Uncertain significance | 0 | 28 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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40 |
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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 | GH-V |
SYNONYM | GHB2 |
SYNONYM | GHL |
SYNONYM | GHV |
SYNONYM | hGH-V |
MIM | 139240 OMIM |
HGNC | HGNC:4262 HGNC |
Ensembl | ENSG00000136487 Ensembl |
AllianceGenome | HGNC:4262 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000423893.7 | hg38 | chr17 | 63,880,215 | 63,881,944 | 1,730 |
ENST00000332800.7 | hg38 | chr17 | 63,880,224 | 63,881,935 | 1,712 |
ENST00000456543.6 | hg38 | chr17 | 63,880,218 | 63,881,842 | 1,625 |
ENST00000622506.4 | hg38 | chr17 | 63,880,215 | 63,881,863 | 1,649 |
ENST00000449787.6 | hg38 | chr17 | 63,880,218 | 63,881,842 | 1,625 |
ENST00000622506.4 | hg19 | chr17 | 61,957,575 | 61,959,223 | 1,649 |
ENST00000423893.7 | hg19 | chr17 | 61,957,575 | 61,959,304 | 1,730 |
ENST00000449787.6 | hg19 | chr17 | 61,957,578 | 61,959,202 | 1,625 |
ENST00000456543.6 | hg19 | chr17 | 61,957,578 | 61,959,202 | 1,625 |
ENST00000332800.7 | hg19 | chr17 | 61,957,584 | 61,959,295 | 1,712 |
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