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.5269T>A | CA414779588 | MT-ND2 | c.800T>A (p.Ile267Asn) | |
| MT | m.5269T>C | CA414779590 | MT-ND2 | c.800T>C (p.Ile267Thr) | dbSNP |
| MT | m.5269T>G | CA414779592 | MT-ND2 | c.800T>G (p.Ile267Ser) | |
| MT | m.5269T= | CA2499564235 | MT-ND2 | c.800T= (p.Ile267=) | |
| MT | m.5270C>A | CA913179436 | MT-ND2 | c.801C>A (p.Ile267=) | |
| MT | m.5270C= | CA2499564236 | MT-ND2 | c.801C= (p.Ile267=) | |
| MT | m.5270C>G | CA414779593 | MT-ND2 | c.801C>G (p.Ile267Met) | |
| MT | m.5270C>T | CA913179437 | MT-ND2 | c.801C>T (p.Ile267=) | dbSNP |
| MT | m.5271G>A | CA414779596 | MT-ND2 | c.802G>A (p.Glu268Lys) | dbSNP |
| MT | m.5271G>C | CA414779598 | MT-ND2 | c.802G>C (p.Glu268Gln) | |
| MT | m.5271G= | CA2573331136 | MT-ND2 | c.802G= (p.Glu268=) | |
| MT | m.5271G>T | CA414779599 | MT-ND2 | c.802G>T (p.Glu268Ter) | |
| MT | m.5272A= | CA2573331137 | MT-ND2 | c.803A= (p.Glu268=) | |
| MT | m.5272A>C | CA414779601 | MT-ND2 | c.803A>C (p.Glu268Ala) | |
| MT | m.5272A>G | CA414779605 | MT-ND2 | c.803A>G (p.Glu268Gly) | |
| MT | m.5272A>T | CA414779603 | MT-ND2 | c.803A>T (p.Glu268Val) | |
| MT | m.5273A= | CA2499564237 | MT-ND2 | c.804A= (p.Glu268=) | |
| MT | m.5273A>C | CA414779607 | MT-ND2 | c.804A>C (p.Glu268Asp) | |
| MT | m.5273A>G | CA913179438 | MT-ND2 | c.804A>G (p.Glu268=) | dbSNP |
| MT | m.5273A>T | CA414779609 | MT-ND2 | c.804A>T (p.Glu268Asp) | ClinVar dbSNP |
| MT | m.5274G>A | CA414779611 | MT-ND2 | c.805G>A (p.Glu269Lys) | dbSNP |
| MT | m.5274G>C | CA414779613 | MT-ND2 | c.805G>C (p.Glu269Gln) | |
| MT | m.5274G= | CA2573331138 | MT-ND2 | c.805G= (p.Glu269=) | |
| MT | m.5274G>T | CA414779614 | MT-ND2 | c.805G>T (p.Glu269Ter) | |
| MT | m.5275A= | CA2573331139 | MT-ND2 | c.806A= (p.Glu269=) | |
| MT | m.5275A>C | CA414779617 | MT-ND2 | c.806A>C (p.Glu269Ala) | |
| MT | m.5275A>G | CA414779618 | MT-ND2 | c.806A>G (p.Glu269Gly) | |
| MT | m.5275A>T | CA414779620 | MT-ND2 | c.806A>T (p.Glu269Val) | |
| MT | m.5276A= | CA2499564238 | MT-ND2 | c.807A= (p.Glu269=) | |
| MT | m.5276A>C | CA414779622 | MT-ND2 | c.807A>C (p.Glu269Asp) | |
| MT | m.5276A>G | CA337097095 | MT-ND2 | c.807A>G (p.Glu269=) | dbSNP |
| MT | m.5276A>T | CA414779625 | MT-ND2 | c.807A>T (p.Glu269Asp) | |
| MT | m.5277T>A | CA414779630 | MT-ND2 | c.808T>A (p.Phe270Ile) | |
| MT | m.5277T>C | CA414779627 | MT-ND2 | c.808T>C (p.Phe270Leu) | ClinVar dbSNP |
| MT | m.5277T>G | CA414779628 | MT-ND2 | c.808T>G (p.Phe270Val) | |
| MT | m.5277T= | CA2499564239 | MT-ND2 | c.808T= (p.Phe270=) | |
| MT | m.5278T>A | CA414779633 | MT-ND2 | c.809T>A (p.Phe270Tyr) | |
| MT | m.5278T>C | CA414779634 | MT-ND2 | c.809T>C (p.Phe270Ser) | dbSNP |
| MT | m.5278T>G | CA414779636 | MT-ND2 | c.809T>G (p.Phe270Cys) | |
| MT | m.5278T= | CA2499564240 | MT-ND2 | c.809T= (p.Phe270=) | |
| MT | m.5279C>A | CA414779638 | MT-ND2 | c.810C>A (p.Phe270Leu) | |
| MT | m.5279C= | CA2573331140 | MT-ND2 | c.810C= (p.Phe270=) | |
| MT | m.5279C>G | CA414779639 | MT-ND2 | c.810C>G (p.Phe270Leu) | |
| MT | m.5279C>T | CA913179446 | MT-ND2 | c.810C>T (p.Phe270=) | |
| MT | m.5280A= | CA2573331141 | MT-ND2 | c.811A= (p.Thr271=) | |
| MT | m.5280A>C | CA414779641 | MT-ND2 | c.811A>C (p.Thr271Pro) | |
| MT | m.5280A>G | CA414779642 | MT-ND2 | c.811A>G (p.Thr271Ala) | |
| MT | m.5280A>T | CA414779645 | MT-ND2 | c.811A>T (p.Thr271Ser) | |
| MT | m.5281C>A | CA414779647 | MT-ND2 | c.812C>A (p.Thr271Lys) | |
| MT | m.5281C= | CA2573331142 | MT-ND2 | c.812C= (p.Thr271=) |