ENST00000420999.2 EFHC2
Information
- Transcript ID
- ENST00000420999.2
- Genome
- hg38
- Position
- chrX:44,147,872-44,343,672
- Strand
- -
- CDS length
- 2,250
- Amino acid length
- 750
- Gene symbol
- EFHC2
- Gene type
- protein-coding
- Gene description
- EF-hand domain containing 2
- Gene Entrez Gene ID
- 80258
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| 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 |
|---|---|---|
| 15 | 44,147,872 | 44,148,896 |
| 14 | 44,163,922 | 44,164,027 |
| 13 | 44,176,292 | 44,176,384 |
| 12 | 44,178,367 | 44,178,564 |
| 11 | 44,229,649 | 44,229,779 |
| 10 | 44,232,481 | 44,232,677 |
| 9 | 44,235,305 | 44,235,447 |
| 8 | 44,242,121 | 44,242,289 |
| 7 | 44,248,272 | 44,248,410 |
| 6 | 44,248,803 | 44,248,916 |
| 5 | 44,250,194 | 44,250,445 |
| 4 | 44,261,075 | 44,261,298 |
| 3 | 44,272,686 | 44,272,836 |
| 2 | 44,312,568 | 44,312,756 |
| 1 | 44,343,547 | 44,343,672 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 15 | CDS | 44,148,795 | 44,148,896 |
| 14 | CDS | 44,163,922 | 44,164,027 |
| 13 | CDS | 44,176,292 | 44,176,384 |
| 12 | CDS | 44,178,367 | 44,178,564 |
| 11 | CDS | 44,229,649 | 44,229,779 |
| 10 | CDS | 44,232,481 | 44,232,677 |
| 9 | CDS | 44,235,305 | 44,235,447 |
| 8 | CDS | 44,242,121 | 44,242,289 |
| 7 | CDS | 44,248,272 | 44,248,410 |
| 6 | CDS | 44,248,803 | 44,248,916 |
| 5 | CDS | 44,250,194 | 44,250,445 |
| 4 | CDS | 44,261,075 | 44,261,298 |
| 3 | CDS | 44,272,686 | 44,272,836 |
| 2 | CDS | 44,312,568 | 44,312,756 |
| 1 | CDS | 44,343,547 | 44,343,588 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chrX | 44,007,118 | 44,202,918 | Link |
CDS sequence
ATGGCCCTGCCTCTGCTGCCGGGCAACAGCTTCAACCGCAACGTGGGAAAGGAGAAGTTTCACAAATCCCAACATTGGGGCTTTTGCAACAATGTTATGATGTTGGTGAGTGATGAAAAGCCTGGAATAGGTGGAGAACCACTTCTGGGGCAAAAGATAAAGCCTAAATGTAGCATATATCCTAAAGGAGATGGAAGTGATGTACCATCATGGGTAGCCTTTGATAAACAGGTATTATCTTTTGATGCCTATTTGGAAGAGGAAGTACTTGATAAAAGCCAAACCAACTACAGAATAAGATACTATAAAATCTACTTCTACCCTGAAGATGACACAATTCAAGTAAATGAACCAGAGGTGAAAAATAGTGGATTACTTCAAGGGACTTCTATCCGGCGTCATCGGATTACTCTTCCGCCTCCTGATGAGGATCAGTTTTATACTGTGTATCATTTTAATGTCGGCACAGAGGTTGTCTTCTATGGCCGGACATTCAAGATTTATGACTGTGATGCATTCACAAGAAACTTTTTGAGGAAAATAGGGGTCAAAGTGAATCCCCCAGTGCAATGTCCAGAAGATCCTTACATGAAGATTCGGAGAGAGGTTGTAGAACACGTAGAGCCCTTACGTCCCTACGAATCCCTCGACACCCTGAAACAGTTCCTCCAGTATCATGGCAAGATTTTGTGTTTCTTCTGCCTGTGGGATGACTCAGTCTCAATGTTTGGAGACCGTAGAGAACTCATCCTGCATTACTTCTTGTGTGATGATACTATTGAAATCAAAGAATTGCTTCCACACAGCTCAGGCCGAGATGCTCTAAAAATGTTCCTCCGGAGGAGTAAGCTACCCAAGAATTGCCCACCTAGAGTCTATCAACCAGGCCAGATAACAGATCGAGCAGTTCTCAATTCATATGGTGACTTTATAAAGAACCAAGCGGATGGCTACCTGTTCGATAGATATAAGCTAGGAAAAGTAGACCAAGAGTTTTACAAAGATAGTGACCTGTCCCTAGGAGTCACCATCAATGTGTGGGGAAGAAAAGTGCTCCTTTATGACTGTGATGAATTTACGAAGTCTTATTATAAGTCTAAATATGGAATTGAGAACTTTACCTCAGTTTCATGCAAGCCTCCTTCTCCTCCTCCAAAAATAGAAAGGAAATTTCCACCTTACAACGGTTTTGGTTCTGAAGAGGATTCTCTCCGTAACTGCATAGACCTCAAGCCCACACCTCATCGGAGGAACTTCAAGAAGTTTATGGAAAAAGACAGCTATGGCTCCAAAAGCAATATACTCCGTTTTTTTGCAAAACTAGTCACAGACAAATGTGTTGACTTGGACAGGATGTTTGTTATTTCATATTATCTCGGTGATGACACCATTTCAGTGTTTGAACCTATAGAGAGGAATTCAGGAATTGCTGGTGGGATGTTCTTGAAAAGAAGTCGCGTTAAGAAGCCTGGACAAGAAGTCTTTAAAAGTGAACTATCTGAATATATCAAGGCCGAGGAGCTGTACATTGGAGTCACGGTGAATGTGAATGGTTACCTATTTCGTTTGCTCAATGCTGATGAGTATACCTTAAACTACATGGAGCAGAATACAGATAAGTATCCTTTCAGTAACCTCAAACTTGCCCTACAAAAGCTGAAGCAAGAAGAAGGAAAATCCAGAGAGCTCAAGCAGGTATTTAAAGCTGCTGACTCTAAGCACACAAATATGGTGGATTATAATACATTCAGAGACATATTGATGTCTTTGACTGTTGGAAACCTTGCAGAGCAAGAATTTGTAACCATTGCACGTCACTACCGTGTGCCTGAGGGCACATGTTCAGATATGGATTTCTTAATCGCACTGGCCCACGAAAAGTTCAAGAAAAATATGTTTGAGAATTTCGACACTTTCATTTATTCCTGTGTGTATGAAGATCGAGAAAAAAAAAATGTATTACCCACCAAAGACATTAAAAGGCTGTGCAAATCCTCCAGATTACCTTTGAGTGATGATCTTCTAGAATCCTTATTGTCAAGGTTTGAAGACAGTGAAAAACAAATAGATTATAAGTCATTTTTCTCTGCCCTGAACTGGAGAAAGAATCCAGTGCCTGAATTGCAACCAGCATCATACCTTAAAGAGAGATGTGAAGATGTTTGGCTTGGTATGCCATCACCTATTCCTGCGAAATACATTGACTACTGGACCTTTTTGAAGGACGCGTTTGGCTTAGAGGAGGAATAA
Amino sequence
MALPLLPGNSFNRNVGKEKFHKSQHWGFCNNVMMLVSDEKPGIGGEPLLGQKIKPKCSIYPKGDGSDVPSWVAFDKQVLSFDAYLEEEVLDKSQTNYRIRYYKIYFYPEDDTIQVNEPEVKNSGLLQGTSIRRHRITLPPPDEDQFYTVYHFNVGTEVVFYGRTFKIYDCDAFTRNFLRKIGVKVNPPVQCPEDPYMKIRREVVEHVEPLRPYESLDTLKQFLQYHGKILCFFCLWDDSVSMFGDRRELILHYFLCDDTIEIKELLPHSSGRDALKMFLRRSKLPKNCPPRVYQPGQITDRAVLNSYGDFIKNQADGYLFDRYKLGKVDQEFYKDSDLSLGVTINVWGRKVLLYDCDEFTKSYYKSKYGIENFTSVSCKPPSPPPKIERKFPPYNGFGSEEDSLRNCIDLKPTPHRRNFKKFMEKDSYGSKSNILRFFAKLVTDKCVDLDRMFVISYYLGDDTISVFEPIERNSGIAGGMFLKRSRVKKPGQEVFKSELSEYIKAEELYIGVTVNVNGYLFRLLNADEYTLNYMEQNTDKYPFSNLKLALQKLKQEEGKSRELKQVFKAADSKHTNMVDYNTFRDILMSLTVGNLAEQEFVTIARHYRVPEGTCSDMDFLIALAHEKFKKNMFENFDTFIYSCVYEDREKKNVLPTKDIKRLCKSSRLPLSDDLLESLLSRFEDSEKQIDYKSFFSALNWRKNPVPELQPASYLKERCEDVWLGMPSPIPAKYIDYWTFLKDAFGLEEE*