UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| MT | m.5359_5378delinsTCTACTCCACCTCAATCACA | CA2499564283 | MT-ND2 | c.890_909delinsTCTACTCCACCTCAATCACA (p.Ile297=) | |
| MT | m.5367_5385del | CA915952205 | MT-ND2 | c.898_916del (p.Thr300ProfsTer6) | ClinVar dbSNP |
| MT | m.5369C>A | CA913179548 | MT-ND2 | c.900C>A (p.Thr300=) | |
| MT | m.5369C= | CA2573331182 | MT-ND2 | c.900C= (p.Thr300=) | |
| MT | m.5369C>G | CA913179549 | MT-ND2 | c.900C>G (p.Thr300=) | |
| MT | m.5369C>T | CA913179550 | MT-ND2 | c.900C>T (p.Thr300=) | |
| MT | m.5370T>A | CA414780034 | MT-ND2 | c.901T>A (p.Ser301Thr) | |
| MT | m.5370T>C | CA414780035 | MT-ND2 | c.901T>C (p.Ser301Pro) | |
| MT | m.5370T>G | CA414780037 | MT-ND2 | c.901T>G (p.Ser301Ala) | |
| MT | m.5370T= | CA2573331183 | MT-ND2 | c.901T= (p.Ser301=) | |
| MT | m.5371C>A | CA414780041 | MT-ND2 | c.902C>A (p.Ser301Ter) | |
| MT | m.5371C= | CA2573331184 | MT-ND2 | c.902C= (p.Ser301=) | |
| MT | m.5371C>G | CA414780043 | MT-ND2 | c.902C>G (p.Ser301Ter) | |
| MT | m.5371C>T | CA414780040 | MT-ND2 | c.902C>T (p.Ser301Leu) | |
| MT | m.5371_5372insCCAGAGGA | CA2740098122 | MT-ND2 | c.902_903insCCAGAGGA (p.Ile302GlnfsTer13) | |
| MT | m.5372A= | CA2499564287 | MT-ND2 | c.903A= (p.Ser301=) | |
| MT | m.5372A>C | CA913179554 | MT-ND2 | c.903A>C (p.Ser301=) | |
| MT | m.5372A>G | CA913179553 | MT-ND2 | c.903A>G (p.Ser301=) | dbSNP |
| MT | m.5372A>T | CA913179552 | MT-ND2 | c.903A>T (p.Ser301=) | |
| MT | m.5373A= | CA2499564288 | MT-ND2 | c.904A= (p.Ile302=) | |
| MT | m.5373A>C | CA414780045 | MT-ND2 | c.904A>C (p.Ile302Leu) | |
| MT | m.5373A>G | CA414780047 | MT-ND2 | c.904A>G (p.Ile302Val) | dbSNP |
| MT | m.5373A>T | CA414780049 | MT-ND2 | c.904A>T (p.Ile302Phe) | |
| MT | m.5374T>A | CA414780051 | MT-ND2 | c.905T>A (p.Ile302Asn) | |
| MT | m.5374T>C | CA414780053 | MT-ND2 | c.905T>C (p.Ile302Thr) | |
| MT | m.5374T>G | CA414780055 | MT-ND2 | c.905T>G (p.Ile302Ser) | |
| MT | m.5374T= | CA2513130924 | MT-ND2 | c.905T= (p.Ile302=) | |
| MT | m.5375C>A | CA913179555 | MT-ND2 | c.906C>A (p.Ile302=) | |
| MT | m.5375C= | CA2499564289 | MT-ND2 | c.906C= (p.Ile302=) | |
| MT | m.5375C>G | CA414780057 | MT-ND2 | c.906C>G (p.Ile302Met) | |
| MT | m.5375C>T | CA913179558 | MT-ND2 | c.906C>T (p.Ile302=) | dbSNP |
| MT | m.5376A= | CA2573331185 | MT-ND2 | c.907A= (p.Thr303=) | |
| MT | m.5376A>C | CA414780060 | MT-ND2 | c.907A>C (p.Thr303Pro) | |
| MT | m.5376A>G | CA414780061 | MT-ND2 | c.907A>G (p.Thr303Ala) | |
| MT | m.5376A>T | CA414780063 | MT-ND2 | c.907A>T (p.Thr303Ser) | |
| MT | m.5377C>A | CA414780066 | MT-ND2 | c.908C>A (p.Thr303Lys) | |
| MT | m.5377C= | CA2573331186 | MT-ND2 | c.908C= (p.Thr303=) | |
| MT | m.5377C>G | CA414780067 | MT-ND2 | c.908C>G (p.Thr303Arg) | |
| MT | m.5377C>T | CA414780069 | MT-ND2 | c.908C>T (p.Thr303Ile) | |
| MT | m.5378A= | CA2499564290 | MT-ND2 | c.909A= (p.Thr303=) | |
| MT | m.5378A>C | CA913179562 | MT-ND2 | c.909A>C (p.Thr303=) | |
| MT | m.5378A>G | CA337097121 | MT-ND2 | c.909A>G (p.Thr303=) | dbSNP |
| MT | m.5378A>T | CA913179560 | MT-ND2 | c.909A>T (p.Thr303=) | |
| MT | m.5379C>A | CA414780072 | MT-ND2 | c.910C>A (p.Leu304Ile) | |
| MT | m.5379C= | CA2573331187 | MT-ND2 | c.910C= (p.Leu304=) | |
| MT | m.5379C>G | CA414780074 | MT-ND2 | c.910C>G (p.Leu304Val) | |
| MT | m.5379C>T | CA913179565 | MT-ND2 | c.910C>T (p.Leu304=) | dbSNP |
| MT | m.5380T>A | CA414780076 | MT-ND2 | c.911T>A (p.Leu304Gln) | |
| MT | m.5380T>C | CA414780078 | MT-ND2 | c.911T>C (p.Leu304Pro) | |
| MT | m.5380T>G | CA414780080 | MT-ND2 | c.911T>G (p.Leu304Arg) |