ENST00000306448.4 ATP6V1E2
Information
- Transcript ID
- ENST00000306448.4
- Genome
- hg38
- Position
- chr2:46,511,847-46,519,957
- Strand
- -
- CDS length
- 681
- Amino acid length
- 227
- Gene symbol
- ATP6V1E2
- Gene type
- protein-coding
- Gene description
- ATPase H+ transporting V1 subunit E2
- Gene Entrez Gene ID
- 90423
Variants
Display target variant
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
|
| 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 | : |
|
| 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 | |||||||||||||||
Exon
| Exon number | Start | Stop |
|---|---|---|
| 2 | 46,511,847 | 46,512,812 |
| 1 | 46,518,945 | 46,519,957 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 2 | CDS | 46,512,031 | 46,512,711 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr2 | 46,738,986 | 46,747,096 | Link |
CDS sequence
ATGGCCCTGAGTGATGTCGATGTGAAAAAGCAGATTAAGCACATGATGGCTTTCATTGAGCAGGAAGCCAATGAGAAAGCAGAGGAAATCGATGCCAAGGCTGAGGAAGAGTTTAACATTGAGAAAGGACGCCTCGTGCAAACCCAACGACTGAAGATTATGGAGTATTATGAGAAAAAGGAGAAGCAGATAGAGCAGCAGAAGAAAATCCTGATGTCCACCATGAGGAATCAGGCGAGGCTGAAAGTCCTGAGAGCCCGAAATGACCTCATCTCAGATTTGCTCAGTGAGGCGAAGCTGAGACTCAGCAGGATTGTGGAGGACCCAGAGGTCTACCAGGGGCTGCTGGATAAACTGGTGCTCCAGGGTCTGCTCCGACTGCTGGAACCTGTGATGATTGTACGCTGCCGGCCACAAGACCTCCTCCTGGTGGAGGCTGCTGTACAAAAAGCCATCCCCGAGTACATGACAATTTCCCAGAAACATGTGGAGGTCCAGATTGATAAAGAGGCATACCTGGCTGTGAATGCAGCTGGAGGTGTGGAGGTCTACAGTGGCAATCAGAGAATAAAGGTTTCAAATACCTTGGAAAGCCGACTGGATCTCTCAGCCAAGCAAAAGATGCCAGAAATACGAATGGCCTTGTTTGGTGCTAACACCAACAGAAAGTTCTTTATATAA
Amino sequence
MALSDVDVKKQIKHMMAFIEQEANEKAEEIDAKAEEEFNIEKGRLVQTQRLKIMEYYEKKEKQIEQQKKILMSTMRNQARLKVLRARNDLISDLLSEAKLRLSRIVEDPEVYQGLLDKLVLQGLLRLLEPVMIVRCRPQDLLLVEAAVQKAIPEYMTISQKHVEVQIDKEAYLAVNAAGGVEVYSGNQRIKVSNTLESRLDLSAKQKMPEIRMALFGANTNRKFFI*