ALS2 alsin Rho guanine nucleotide exchange factor ALS2
Information
- Symbol
- ALS2
- Type
- protein-coding
- Description
- alsin Rho guanine nucleotide exchange factor ALS2
- Entrez Gene ID
- 57679
- Genome
- hg19
- Position
- chr2:202,565,288-202,646,835
- Genome
- hg38
- Position
- chr2:201,700,565-201,782,112
- MIM
- 606352 OMIM
- HGNC
- HGNC:443 HGNC
- Ensembl
- ENSG00000003393 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 140 |
| Likely pathogenic | 0 | 94 |
| Benign | 0 | 206 |
| Likely benign | 0 | 648 |
| Conflicting classifications of pathogenicity | 0 | 96 |
| Uncertain significance | 0 | 838 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
256 |
 |
1,584 |
 |
36 |
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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| Category | : |
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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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| Category | : |
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| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
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| Search word | : | |
| Filtering | : |
| 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 | ALS2CR6 |
| SYNONYM | ALSJ |
| SYNONYM | IAHSP |
| SYNONYM | PLSJ |
| MIM | 606352 OMIM |
| HGNC | HGNC:443 HGNC |
| Ensembl | ENSG00000003393 Ensembl |
| AllianceGenome | HGNC:443 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000681312.1 | hg38 | chr2 | 201,759,498 | 201,780,900 | 21,403 |
| ENST00000680861.1 | hg38 | chr2 | 201,700,565 | 201,782,112 | 81,548 |
| ENST00000681303.1 | hg38 | chr2 | 201,721,990 | 201,780,956 | 58,967 |
| ENST00000679516.1 | hg38 | chr2 | 201,700,566 | 201,769,143 | 68,578 |
| ENST00000680497.1 | hg38 | chr2 | 201,700,566 | 201,769,143 | 68,578 |
| ENST00000679503.1 | hg38 | chr2 | 201,759,531 | 201,769,150 | 9,620 |
| ENST00000680000.1 | hg38 | chr2 | 201,701,795 | 201,781,158 | 79,364 |
| ENST00000680287.1 | hg38 | chr2 | 201,741,184 | 201,780,956 | 39,773 |
| ENST00000409632.7 | hg38 | chr2 | 201,759,531 | 201,780,905 | 21,375 |
| ENST00000680188.1 | hg38 | chr2 | 201,759,481 | 201,769,826 | 10,346 |
| ENST00000679939.1 | hg38 | chr2 | 201,740,610 | 201,769,162 | 28,553 |
| ENST00000467448.5 | hg38 | chr2 | 201,759,457 | 201,780,956 | 21,500 |
| ENST00000681808.1 | hg38 | chr2 | 201,700,567 | 201,781,158 | 80,592 |
| ENST00000681558.1 | hg38 | chr2 | 201,700,566 | 201,739,205 | 38,640 |
| ENST00000681495.1 | hg38 | chr2 | 201,700,567 | 201,739,205 | 38,639 |
| ENST00000680814.1 | hg38 | chr2 | 201,700,592 | 201,781,158 | 80,567 |
| ENST00000681152.1 | hg38 | chr2 | 201,722,058 | 201,780,878 | 58,821 |
| ENST00000680759.1 | hg38 | chr2 | 201,700,567 | 201,781,158 | 80,592 |
| ENST00000680163.1 | hg38 | chr2 | 201,700,566 | 201,769,812 | 69,247 |
| ENST00000679728.1 | hg38 | chr2 | 201,759,539 | 201,781,158 | 21,620 |
| ENST00000264276.11 | hg38 | chr2 | 201,700,267 | 201,780,933 | 80,667 |
| ENST00000679550.1 | hg38 | chr2 | 201,740,610 | 201,769,828 | 29,219 |
| ENST00000679949.1 | hg38 | chr2 | 201,740,625 | 201,781,158 | 40,534 |
| ENST00000681619.1 | hg38 | chr2 | 201,700,567 | 201,781,158 | 80,592 |
| ENST00000264276.11 | hg19 | chr2 | 202,564,990 | 202,645,656 | 80,667 |
| ENST00000409632.7 | hg19 | chr2 | 202,624,254 | 202,645,628 | 21,375 |
| ENST00000467448.5 | hg19 | chr2 | 202,624,180 | 202,645,679 | 21,500 |
| ENST00000679516.1 | hg19 | chr2 | 202,565,289 | 202,633,866 | 68,578 |
| ENST00000679949.1 | hg19 | chr2 | 202,605,348 | 202,645,881 | 40,534 |
| ENST00000680163.1 | hg19 | chr2 | 202,565,289 | 202,634,535 | 69,247 |
| ENST00000680497.1 | hg19 | chr2 | 202,565,289 | 202,633,866 | 68,578 |
| ENST00000679550.1 | hg19 | chr2 | 202,605,333 | 202,634,551 | 29,219 |
| ENST00000679939.1 | hg19 | chr2 | 202,605,333 | 202,633,885 | 28,553 |
| ENST00000681558.1 | hg19 | chr2 | 202,565,289 | 202,603,928 | 38,640 |
| ENST00000680000.1 | hg19 | chr2 | 202,566,518 | 202,645,881 | 79,364 |
| ENST00000679503.1 | hg19 | chr2 | 202,624,254 | 202,633,873 | 9,620 |
| ENST00000680861.1 | hg19 | chr2 | 202,565,288 | 202,646,835 | 81,548 |
| ENST00000679728.1 | hg19 | chr2 | 202,624,262 | 202,645,881 | 21,620 |
| ENST00000681495.1 | hg19 | chr2 | 202,565,290 | 202,603,928 | 38,639 |
| ENST00000680814.1 | hg19 | chr2 | 202,565,315 | 202,645,881 | 80,567 |
| ENST00000681152.1 | hg19 | chr2 | 202,586,781 | 202,645,601 | 58,821 |
| ENST00000681303.1 | hg19 | chr2 | 202,586,713 | 202,645,679 | 58,967 |
| ENST00000680287.1 | hg19 | chr2 | 202,605,907 | 202,645,679 | 39,773 |
| ENST00000680759.1 | hg19 | chr2 | 202,565,290 | 202,645,881 | 80,592 |
| ENST00000680188.1 | hg19 | chr2 | 202,624,204 | 202,634,549 | 10,346 |
| ENST00000681312.1 | hg19 | chr2 | 202,624,221 | 202,645,623 | 21,403 |
| ENST00000681619.1 | hg19 | chr2 | 202,565,290 | 202,645,881 | 80,592 |
| ENST00000681808.1 | hg19 | chr2 | 202,565,290 | 202,645,881 | 80,592 |
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