H2AZ2 H2A.Z variant histone 2
Clinical Significance
| MGeND | ClinVar |
|---|
Ranking
| ClinVar | |
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | H2A.Z-2 |
| SYNONYM | H2AFV |
| SYNONYM | H2AV |
| MIM | 620008 OMIM |
| HGNC | HGNC:20664 HGNC |
| Ensembl | ENSG00000105968 Ensembl |
| AllianceGenome | HGNC:20664 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000349299.7 | hg38 | chr7 | 44,834,228 | 44,848,021 | 13,794 |
| ENST00000350771.7 | hg38 | chr7 | 44,834,228 | 44,848,076 | 13,849 |
| ENST00000437072.5 | hg38 | chr7 | 44,829,897 | 44,848,082 | 18,186 |
| ENST00000381124.9 | hg38 | chr7 | 44,834,239 | 44,848,080 | 13,842 |
| ENST00000446531.1 | hg38 | chr7 | 44,834,925 | 44,848,083 | 13,159 |
| ENST00000521529.5 | hg38 | chr7 | 44,834,310 | 44,848,040 | 13,731 |
| ENST00000308153.9 | hg38 | chr7 | 44,831,978 | 44,848,087 | 16,110 |
| ENST00000222690.10 | hg38 | chr7 | 44,826,791 | 44,848,077 | 21,287 |
| ENST00000222690.10 | hg19 | chr7 | 44,866,390 | 44,887,676 | 21,287 |
| ENST00000437072.5 | hg19 | chr7 | 44,869,496 | 44,887,681 | 18,186 |
| ENST00000308153.9 | hg19 | chr7 | 44,871,577 | 44,887,686 | 16,110 |
| ENST00000349299.7 | hg19 | chr7 | 44,873,827 | 44,887,620 | 13,794 |
| ENST00000350771.7 | hg19 | chr7 | 44,873,827 | 44,887,675 | 13,849 |
| ENST00000381124.9 | hg19 | chr7 | 44,873,838 | 44,887,679 | 13,842 |
| ENST00000521529.5 | hg19 | chr7 | 44,873,909 | 44,887,639 | 13,731 |
| ENST00000446531.1 | hg19 | chr7 | 44,874,524 | 44,887,682 | 13,159 |
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