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.5400G>A | CA414780166 | MT-ND2 | c.931G>A (p.Val311Ile) | dbSNP |
| MT | m.5400G>C | CA414780164 | MT-ND2 | c.931G>C (p.Val311Leu) | |
| MT | m.5400G= | CA2573331200 | MT-ND2 | c.931G= (p.Val311=) | |
| MT | m.5400G>T | CA414780162 | MT-ND2 | c.931G>T (p.Val311Leu) | |
| MT | m.5401T>A | CA414780171 | MT-ND2 | c.932T>A (p.Val311Glu) | |
| MT | m.5401T>C | CA414780169 | MT-ND2 | c.932T>C (p.Val311Ala) | |
| MT | m.5401T>G | CA414780170 | MT-ND2 | c.932T>G (p.Val311Gly) | |
| MT | m.5401T= | CA2573331201 | MT-ND2 | c.932T= (p.Val311=) | |
| MT | m.5402A= | CA2499564298 | MT-ND2 | c.933A= (p.Val311=) | |
| MT | m.5402A>C | CA913179585 | MT-ND2 | c.933A>C (p.Val311=) | |
| MT | m.5402A>G | CA337097129 | MT-ND2 | c.933A>G (p.Val311=) | dbSNP |
| MT | m.5402A>T | CA913179584 | MT-ND2 | c.933A>T (p.Val311=) | |
| MT | m.5406dup | CA2740098123 | MT-ND2 | c.937dup (p.Ile313AsnfsTer6) | |
| MT | m.5403A= | CA2573331202 | MT-ND2 | c.934A= (p.Lys312=) | |
| MT | m.5403A>C | CA414780175 | MT-ND2 | c.934A>C (p.Lys312Gln) | |
| MT | m.5403A>G | CA414780177 | MT-ND2 | c.934A>G (p.Lys312Glu) | |
| MT | m.5403A>T | CA414780179 | MT-ND2 | c.934A>T (p.Lys312Ter) | |
| MT | m.5404A= | CA2573331203 | MT-ND2 | c.935A= (p.Lys312=) | |
| MT | m.5404A>C | CA414780181 | MT-ND2 | c.935A>C (p.Lys312Thr) | |
| MT | m.5404A>G | CA414780183 | MT-ND2 | c.935A>G (p.Lys312Arg) | |
| MT | m.5404A>T | CA414780184 | MT-ND2 | c.935A>T (p.Lys312Ile) | |
| MT | m.5405A= | CA2573331204 | MT-ND2 | c.936A= (p.Lys312=) | |
| MT | m.5405A>C | CA414780187 | MT-ND2 | c.936A>C (p.Lys312Asn) | |
| MT | m.5405A>G | CA913179589 | MT-ND2 | c.936A>G (p.Lys312=) | |
| MT | m.5405A>T | CA414780189 | MT-ND2 | c.936A>T (p.Lys312Asn) | |
| MT | m.5406A= | CA2573331205 | MT-ND2 | c.937A= (p.Ile313=) | |
| MT | m.5406A>C | CA414780194 | MT-ND2 | c.937A>C (p.Ile313Leu) | |
| MT | m.5406A>G | CA414780192 | MT-ND2 | c.937A>G (p.Ile313Val) | |
| MT | m.5406A>T | CA414780190 | MT-ND2 | c.937A>T (p.Ile313Leu) | |
| MT | m.5407T>A | CA414780196 | MT-ND2 | c.938T>A (p.Ile313Lys) | |
| MT | m.5407T>C | CA414780197 | MT-ND2 | c.938T>C (p.Ile313Thr) | |
| MT | m.5407T>G | CA414780200 | MT-ND2 | c.938T>G (p.Ile313Arg) | |
| MT | m.5407T= | CA2573331206 | MT-ND2 | c.938T= (p.Ile313=) | |
| MT | m.5408A= | CA2499564299 | MT-ND2 | c.939A= (p.Ile313=) | |
| MT | m.5408A>C | CA913179590 | MT-ND2 | c.939A>C (p.Ile313=) | |
| MT | m.5408A>G | CA414780201 | MT-ND2 | c.939A>G (p.Ile313Met) | dbSNP |
| MT | m.5408A>T | CA913179591 | MT-ND2 | c.939A>T (p.Ile313=) | |
| MT | m.5409A= | CA2573331207 | MT-ND2 | c.940A= (p.Lys314=) | |
| MT | m.5409A>C | CA414780204 | MT-ND2 | c.940A>C (p.Lys314Gln) | |
| MT | m.5409A>G | CA414780206 | MT-ND2 | c.940A>G (p.Lys314Glu) | |
| MT | m.5409A>T | CA414780207 | MT-ND2 | c.940A>T (p.Lys314Ter) | |
| MT | m.5410A= | CA2573331208 | MT-ND2 | c.941A= (p.Lys314=) | |
| MT | m.5410A>C | CA414780209 | MT-ND2 | c.941A>C (p.Lys314Thr) | |
| MT | m.5410A>G | CA414780211 | MT-ND2 | c.941A>G (p.Lys314Arg) | |
| MT | m.5410A>T | CA414780213 | MT-ND2 | c.941A>T (p.Lys314Ile) | |
| MT | m.5411A= | CA2573331209 | MT-ND2 | c.942A= (p.Lys314=) | |
| MT | m.5411A>C | CA414780214 | MT-ND2 | c.942A>C (p.Lys314Asn) | |
| MT | m.5411A>G | CA913179592 | MT-ND2 | c.942A>G (p.Lys314=) | |
| MT | m.5411A>T | CA414780216 | MT-ND2 | c.942A>T (p.Lys314Asn) | |
| MT | m.5412T>A | CA414780220 | MT-ND2 | c.943T>A (p.Ter315Arg) |