S100A2 S100 calcium binding protein A2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Uncertain significance | 0 | 2 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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4 |
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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
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 | |||||||||||
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| 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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| Category | : |
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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 | CAN19 |
| SYNONYM | S100L |
| MIM | 176993 OMIM |
| HGNC | HGNC:10492 HGNC |
| Ensembl | ENSG00000196754 Ensembl |
| AllianceGenome | HGNC:10492 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000487430.7 | hg38 | chr1 | 153,561,340 | 153,564,233 | 2,894 |
| ENST00000497140.5 | hg38 | chr1 | 153,561,340 | 153,565,830 | 4,491 |
| ENST00000368709.6 | hg38 | chr1 | 153,561,343 | 153,566,755 | 5,413 |
| ENST00000368707.5 | hg38 | chr1 | 153,561,349 | 153,565,542 | 4,194 |
| ENST00000368708.9 | hg38 | chr1 | 153,561,108 | 153,565,844 | 4,737 |
| ENST00000368710.6 | hg38 | chr1 | 153,561,340 | 153,567,890 | 6,551 |
| ENST00000368708.9 | hg19 | chr1 | 153,533,584 | 153,538,320 | 4,737 |
| ENST00000487430.7 | hg19 | chr1 | 153,533,816 | 153,536,709 | 2,894 |
| ENST00000497140.5 | hg19 | chr1 | 153,533,816 | 153,538,306 | 4,491 |
| ENST00000368710.6 | hg19 | chr1 | 153,533,816 | 153,540,366 | 6,551 |
| ENST00000368709.6 | hg19 | chr1 | 153,533,819 | 153,539,231 | 5,413 |
| ENST00000368707.5 | hg19 | chr1 | 153,533,825 | 153,538,018 | 4,194 |
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