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 |
|---|---|---|---|---|---|
| 8 | g.18400717C>A | CA459699375 | NAT2 | c.714C>A (p.Ile238=) c.324C>A (p.Ile108=) | |
| 8 | g.18400717C>G | CA370636469 | NAT2 | c.714C>G (p.Ile238Met) c.324C>G (p.Ile108Met) | |
| 8 | g.18400717C>T | CA459699378 | NAT2 | c.714C>T (p.Ile238=) c.324C>T (p.Ile108=) | COSMIC |
| 8 | g.18400718C>A | CA370636470 | NAT2 | c.715C>A (p.Leu239Ile) c.325C>A (p.Leu109Ile) | |
| 8 | g.18400718C>G | CA370636472 | NAT2 | c.715C>G (p.Leu239Val) c.325C>G (p.Leu109Val) | |
| 8 | g.18400718C>T | CA370636471 | NAT2 | c.715C>T (p.Leu239Phe) c.325C>T (p.Leu109Phe) | |
| 8 | g.18400719T>A | CA370636473 | NAT2 | c.716T>A (p.Leu239His) c.326T>A (p.Leu109His) | |
| 8 | g.18400719T>C | CA370636474 | NAT2 | c.716T>C (p.Leu239Pro) c.326T>C (p.Leu109Pro) | |
| 8 | g.18400719T>G | CA370636475 | NAT2 | c.716T>G (p.Leu239Arg) c.326T>G (p.Leu109Arg) | |
| 8 | g.18400720C>A | CA459699394 | NAT2 | c.717C>A (p.Leu239=) c.327C>A (p.Leu109=) | |
| 8 | g.18400720C= | CA1768219117 | NAT2 | c.717C= (p.Leu239=) c.327C= (p.Leu109=) | |
| 8 | g.18400720C>G | CA459699392 | NAT2 | c.717C>G (p.Leu239=) c.327C>G (p.Leu109=) | |
| 8 | g.18400720C>T | CA4651684 | NAT2 | c.717C>T (p.Leu239=) c.327C>T (p.Leu109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400721A>C | CA370636476 | NAT2 | c.718A>C (p.Thr240Pro) c.328A>C (p.Thr110Pro) | |
| 8 | g.18400721A>G | CA370636477 | NAT2 | c.718A>G (p.Thr240Ala) c.328A>G (p.Thr110Ala) | gnomAD v4 |
| 8 | g.18400721A>T | CA370636478 | NAT2 | c.718A>T (p.Thr240Ser) c.328A>T (p.Thr110Ser) | |
| 8 | g.18400722C>A | CA173519938 | NAT2 | c.719C>A (p.Thr240Asn) c.329C>A (p.Thr110Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400722C= | CA1768219118 | NAT2 | c.719C= (p.Thr240=) c.329C= (p.Thr110=) | |
| 8 | g.18400722C>G | CA370636479 | NAT2 | c.719C>G (p.Thr240Ser) c.329C>G (p.Thr110Ser) | |
| 8 | g.18400722C>T | CA370636480 | NAT2 | c.719C>T (p.Thr240Ile) c.329C>T (p.Thr110Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400723C>A | CA459699405 | NAT2 | c.720C>A (p.Thr240=) c.330C>A (p.Thr110=) | |
| 8 | g.18400723C>G | CA459699410 | NAT2 | c.720C>G (p.Thr240=) c.330C>G (p.Thr110=) | |
| 8 | g.18400723C>T | CA459699411 | NAT2 | c.720C>T (p.Thr240=) c.330C>T (p.Thr110=) | |
| 8 | g.18400724T>A | CA370636482 | NAT2 | c.721T>A (p.Tyr241Asn) c.331T>A (p.Tyr111Asn) | |
| 8 | g.18400724T>C | CA370636483 | NAT2 | c.721T>C (p.Tyr241His) c.331T>C (p.Tyr111His) | |
| 8 | g.18400724T>G | CA370636481 | NAT2 | c.721T>G (p.Tyr241Asp) c.331T>G (p.Tyr111Asp) | |
| 8 | g.18400725A>C | CA370636484 | NAT2 | c.722A>C (p.Tyr241Ser) c.332A>C (p.Tyr111Ser) | |
| 8 | g.18400725A>G | CA370636485 | NAT2 | c.722A>G (p.Tyr241Cys) c.332A>G (p.Tyr111Cys) | gnomAD v4 |
| 8 | g.18400725A>T | CA370636486 | NAT2 | c.722A>T (p.Tyr241Phe) c.332A>T (p.Tyr111Phe) | |
| 8 | g.18400726T>A | CA370636487 | NAT2 | c.723T>A (p.Tyr241Ter) c.333T>A (p.Tyr111Ter) | |
| 8 | g.18400726T>C | CA459699428 | NAT2 | c.723T>C (p.Tyr241=) c.333T>C (p.Tyr111=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400726T>G | CA370636488 | NAT2 | c.723T>G (p.Tyr241Ter) c.333T>G (p.Tyr111Ter) | |
| 8 | g.18400726T= | CA1768219119 | NAT2 | c.723T= (p.Tyr241=) c.333T= (p.Tyr111=) | |
| 8 | g.18400727A>C | CA459699431 | NAT2 | c.724A>C (p.Arg242=) c.334A>C (p.Arg112=) | |
| 8 | g.18400727A>G | CA370636489 | NAT2 | c.724A>G (p.Arg242Gly) c.334A>G (p.Arg112Gly) | |
| 8 | g.18400727A>T | CA370636490 | NAT2 | c.724A>T (p.Arg242Ter) c.334A>T (p.Arg112Ter) | |
| 8 | g.18400728G>A | CA370636491 | NAT2 | c.725G>A (p.Arg242Lys) c.335G>A (p.Arg112Lys) | |
| 8 | g.18400728G>C | CA370636492 | NAT2 | c.725G>C (p.Arg242Thr) c.335G>C (p.Arg112Thr) | gnomAD v4 |
| 8 | g.18400728G>T | CA370636493 | NAT2 | c.725G>T (p.Arg242Ile) c.335G>T (p.Arg112Ile) | COSMIC |
| 8 | g.18400729A>C | CA370636494 | NAT2 | c.726A>C (p.Arg242Ser) c.336A>C (p.Arg112Ser) | |
| 8 | g.18400729A>G | CA459699440 | NAT2 | c.726A>G (p.Arg242=) c.336A>G (p.Arg112=) | |
| 8 | g.18400729A>T | CA370636495 | NAT2 | c.726A>T (p.Arg242Ser) c.336A>T (p.Arg112Ser) | |
| 8 | g.18400730A>C | CA370636497 | NAT2 | c.727A>C (p.Lys243Gln) c.337A>C (p.Lys113Gln) | |
| 8 | g.18400730A>G | CA370636498 | NAT2 | c.727A>G (p.Lys243Glu) c.337A>G (p.Lys113Glu) | |
| 8 | g.18400730A>T | CA370636496 | NAT2 | c.727A>T (p.Lys243Ter) c.337A>T (p.Lys113Ter) | |
| 8 | g.18400731A>C | CA370636499 | NAT2 | c.728A>C (p.Lys243Thr) c.338A>C (p.Lys113Thr) | |
| 8 | g.18400731A>G | CA370636500 | NAT2 | c.728A>G (p.Lys243Arg) c.338A>G (p.Lys113Arg) | |
| 8 | g.18400731A>T | CA370636501 | NAT2 | c.728A>T (p.Lys243Ile) c.338A>T (p.Lys113Ile) | |
| 8 | g.18400732A= | CA1768219120 | NAT2 | c.729A= (p.Lys243=) c.339A= (p.Lys113=) | |
| 8 | g.18400732A>C | CA370636502 | NAT2 | c.729A>C (p.Lys243Asn) c.339A>C (p.Lys113Asn) |