ENST00000538399.1 EHD2
Information
- Transcript ID
- ENST00000538399.1
- Genome
- hg38
- Position
- chr19:47,713,422-47,741,853
- Strand
- +
- CDS length
- 1,224
- Amino acid length
- 408
- Gene symbol
- EHD2
- Gene type
- protein-coding
- Gene description
- EH domain containing 2
- Gene Entrez Gene ID
- 30846
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| 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 | : |
|
| 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 |
|---|---|---|
| 1 | 47,713,422 | 47,713,538 |
| 2 | 47,718,509 | 47,718,606 |
| 3 | 47,725,812 | 47,726,224 |
| 4 | 47,736,369 | 47,736,533 |
| 5 | 47,740,881 | 47,741,853 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 2 | CDS | 47,718,513 | 47,718,606 |
| 3 | CDS | 47,725,812 | 47,726,224 |
| 4 | CDS | 47,736,369 | 47,736,533 |
| 5 | CDS | 47,740,881 | 47,741,432 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr19 | 48,216,679 | 48,245,110 | Link |
CDS sequence
ATGTGTGCCCAGCTCCCTAATCAGGTCCTGGAGAGCATCAGCATCATCGACACCCCGGGTATCCTGTCGGGTGCCAAGCAGAGAGTGAGCCGCGGCTACGACTTCCCGGCCGTGCTGCGCTGGTTCGCGGAGCGCGTGGACCTCATCATCCTGCTCTTTGATGCGCACAAGCTGGAGATCTCGGACGAGTTCTCAGAGGCCATCGGCGCGTTGCGGGGCCATGAGGACAAGATCCGCGTGGTGCTCAACAAGGCCGACATGGTGGAGACGCAGCAGCTGATGCGCGTCTACGGCGCGCTCATGTGGGCGCTGGGCAAGGTGGTGGGCACGCCCGAGGTGCTGCGCGTCTACATCGGCTCCTTCTGGTCCCAGCCCCTCCTCGTGCCCGACAACCGGCGCCTCTTCGAGCTGGAGGAGCAGGACCTCTTCCGCGACATCCAGGGCCTGCCCCGGCACGCAGCCTTGCGCAAGCTCAACGACCTGGTGAAGAGGGCCCGGCTGGTGCGAGTTCACGCTTACATCATCAGCTACCTGAAGAAGGAGATGCCCTCTGTGTTTGGGAAGGAGAACAAGAAGAAGCAGCTGATCCTCAAACTGCCCGTCATCTTTGCGAAGATTCAGCTGGAACATCACATCTCCCCTGGGGACTTTCCTGATTGCCAGAAAATGCAGGAGCTGCTGATGGCGCACGACTTCACCAAGTTTCACTCGCTGAAGCCGAAGCTGCTAGAGGCACTGGACGAGATGCTGACGCACGACATCGCCAAGCTCATGCCCCTGCTGCGGCAGGAGGAGCTGGAGAGCACCGAGGTGGGCGTGCAGGGGGGCGCTTTTGAGGGCACCCACATGGGCCCGTTTGTGGAGCGGGGACCTGACGAGGCCATGGAGGACGGCGAGGAGGGCTCGGACGACGAGGCCGAGTGGGTGGTGACCAAGGACAAGTCCAAATACGACGAGATCTTCTACAACCTGGCGCCTGCCGACGGCAAGCTGAGCGGCTCCAAGGCCAAGACCTGGATGGTGGGGACCAAGCTCCCCAACTCAGTGCTGGGGCGCATCTGGAAGCTCAGCGATGTGGACCGCGACGGCATGCTGGATGATGAGGAGTTCGCGCTGGCCAGCCACCTCATCGAGGCCAAGCTGGAAGGCCACGGGCTGCCCGCCAACCTGCCCCGTCGCCTGGTGCCACCCTCCAAGCGACGCCACAAGGGCTCCGCCGAGTGA
Amino sequence
MCAQLPNQVLESISIIDTPGILSGAKQRVSRGYDFPAVLRWFAERVDLIILLFDAHKLEISDEFSEAIGALRGHEDKIRVVLNKADMVETQQLMRVYGALMWALGKVVGTPEVLRVYIGSFWSQPLLVPDNRRLFELEEQDLFRDIQGLPRHAALRKLNDLVKRARLVRVHAYIISYLKKEMPSVFGKENKKKQLILKLPVIFAKIQLEHHISPGDFPDCQKMQELLMAHDFTKFHSLKPKLLEALDEMLTHDIAKLMPLLRQEELESTEVGVQGGAFEGTHMGPFVERGPDEAMEDGEEGSDDEAEWVVTKDKSKYDEIFYNLAPADGKLSGSKAKTWMVGTKLPNSVLGRIWKLSDVDRDGMLDDEEFALASHLIEAKLEGHGLPANLPRRLVPPSKRRHKGSAE*