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.5395A= | CA2573331197 | MT-ND2 | c.926A= (p.Asn309=) | |
| MT | m.5395A>C | CA414780141 | MT-ND2 | c.926A>C (p.Asn309Thr) | |
| MT | m.5395A>G | CA414780137 | MT-ND2 | c.926A>G (p.Asn309Ser) | |
| MT | m.5395A>T | CA414780140 | MT-ND2 | c.926A>T (p.Asn309Ile) | |
| MT | m.5396C>A | CA414780143 | MT-ND2 | c.927C>A (p.Asn309Lys) | |
| MT | m.5396C= | CA2499564296 | MT-ND2 | c.927C= (p.Asn309=) | |
| MT | m.5396C>G | CA414780145 | MT-ND2 | c.927C>G (p.Asn309Lys) | |
| MT | m.5396C>T | CA913179581 | MT-ND2 | c.927C>T (p.Asn309=) | dbSNP |
| MT | m.5397A= | CA2573331198 | MT-ND2 | c.928A= (p.Asn310=) | |
| MT | m.5397A>C | CA414780147 | MT-ND2 | c.928A>C (p.Asn310His) | |
| MT | m.5397A>G | CA414780149 | MT-ND2 | c.928A>G (p.Asn310Asp) | |
| MT | m.5397A>T | CA414780151 | MT-ND2 | c.928A>T (p.Asn310Tyr) | |
| MT | m.5398A= | CA2573331199 | MT-ND2 | c.929A= (p.Asn310=) | |
| MT | m.5398A>C | CA414780153 | MT-ND2 | c.929A>C (p.Asn310Thr) | |
| MT | m.5398A>G | CA414780155 | MT-ND2 | c.929A>G (p.Asn310Ser) | |
| MT | m.5398A>T | CA414780157 | MT-ND2 | c.929A>T (p.Asn310Ile) | |
| MT | m.5399C>A | CA337097127 | MT-ND2 | c.930C>A (p.Asn310Lys) | dbSNP |
| MT | m.5399C= | CA2499564297 | MT-ND2 | c.930C= (p.Asn310=) | |
| MT | m.5399C>G | CA414780160 | MT-ND2 | c.930C>G (p.Asn310Lys) | |
| MT | m.5399C>T | CA913179582 | MT-ND2 | c.930C>T (p.Asn310=) | dbSNP |
| 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) |