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 |
|---|---|---|---|---|---|
| 15 | g.96334573T>A | CA393931517 | NR2F2 | c.940T>A (p.Cys314Ser) c.481T>A (p.Cys161Ser) c.541T>A (p.Cys181Ser) | |
| 15 | g.96334573T>C | CA393931518 | NR2F2 | c.940T>C (p.Cys314Arg) c.481T>C (p.Cys161Arg) c.541T>C (p.Cys181Arg) | ClinVar dbSNP |
| 15 | g.96334573T>G | CA393931519 | NR2F2 | c.940T>G (p.Cys314Gly) c.481T>G (p.Cys161Gly) c.541T>G (p.Cys181Gly) | |
| 15 | g.96334573T= | CA2198015833 | NR2F2 | c.940T= (p.Cys314=) c.481T= (p.Cys161=) c.541T= (p.Cys181=) | |
| 15 | g.96334574G>A | CA393931520 | NR2F2 | c.941G>A (p.Cys314Tyr) c.482G>A (p.Cys161Tyr) c.542G>A (p.Cys181Tyr) | |
| 15 | g.96334574G>C | CA393931522 | NR2F2 | c.941G>C (p.Cys314Ser) c.482G>C (p.Cys161Ser) c.542G>C (p.Cys181Ser) | |
| 15 | g.96334574G>T | CA393931521 | NR2F2 | c.941G>T (p.Cys314Phe) c.482G>T (p.Cys161Phe) c.542G>T (p.Cys181Phe) | |
| 15 | g.96334575C>A | CA393931523 | NR2F2 | c.942C>A (p.Cys314Ter) c.483C>A (p.Cys161Ter) c.543C>A (p.Cys181Ter) | |
| 15 | g.96334575C>G | CA393931524 | NR2F2 | c.942C>G (p.Cys314Trp) c.483C>G (p.Cys161Trp) c.543C>G (p.Cys181Trp) | |
| 15 | g.96334575C>T | CA492689924 | NR2F2 | c.942C>T (p.Cys314=) c.483C>T (p.Cys161=) c.543C>T (p.Cys181=) | gnomAD v4 |
| 15 | g.96334576C>A | CA393931525 | NR2F2 | c.943C>A (p.Leu315Ile) c.484C>A (p.Leu162Ile) c.544C>A (p.Leu182Ile) | gnomAD v4 |
| 15 | g.96334576C>G | CA393931527 | NR2F2 | c.943C>G (p.Leu315Val) c.484C>G (p.Leu162Val) c.544C>G (p.Leu182Val) | |
| 15 | g.96334576C>T | CA393931526 | NR2F2 | c.943C>T (p.Leu315Phe) c.484C>T (p.Leu162Phe) c.544C>T (p.Leu182Phe) | |
| 15 | g.96334577T>A | CA393931528 | NR2F2 | c.944T>A (p.Leu315His) c.485T>A (p.Leu162His) c.545T>A (p.Leu182His) | |
| 15 | g.96334577T>C | CA393931530 | NR2F2 | c.944T>C (p.Leu315Pro) c.485T>C (p.Leu162Pro) c.545T>C (p.Leu182Pro) | |
| 15 | g.96334577T>G | CA393931529 | NR2F2 | c.944T>G (p.Leu315Arg) c.485T>G (p.Leu162Arg) c.545T>G (p.Leu182Arg) | |
| 15 | g.96334578C>A | CA492689927 | NR2F2 | c.945C>A (p.Leu315=) c.486C>A (p.Leu162=) c.546C>A (p.Leu182=) | |
| 15 | g.96334578C>G | CA492689926 | NR2F2 | c.945C>G (p.Leu315=) c.486C>G (p.Leu162=) c.546C>G (p.Leu182=) | |
| 15 | g.96334578C>T | CA492689925 | NR2F2 | c.945C>T (p.Leu315=) c.486C>T (p.Leu162=) c.546C>T (p.Leu182=) | |
| 15 | g.96334579A>C | CA393931531 | NR2F2 | c.946A>C (p.Lys316Gln) c.487A>C (p.Lys163Gln) c.547A>C (p.Lys183Gln) | |
| 15 | g.96334579A>G | CA393931532 | NR2F2 | c.946A>G (p.Lys316Glu) c.487A>G (p.Lys163Glu) c.547A>G (p.Lys183Glu) | |
| 15 | g.96334579A>T | CA393931533 | NR2F2 | c.946A>T (p.Lys316Ter) c.487A>T (p.Lys163Ter) c.547A>T (p.Lys183Ter) | |
| 15 | g.96334580A>C | CA393931534 | NR2F2 | c.947A>C (p.Lys316Thr) c.488A>C (p.Lys163Thr) c.548A>C (p.Lys183Thr) | |
| 15 | g.96334580A>G | CA393931535 | NR2F2 | c.947A>G (p.Lys316Arg) c.488A>G (p.Lys163Arg) c.548A>G (p.Lys183Arg) | |
| 15 | g.96334580A>T | CA393931536 | NR2F2 | c.947A>T (p.Lys316Met) c.488A>T (p.Lys163Met) c.548A>T (p.Lys183Met) | |
| 15 | g.96334581G>A | CA492689929 | NR2F2 | c.948G>A (p.Lys316=) c.489G>A (p.Lys163=) c.549G>A (p.Lys183=) | gnomAD v4 |
| 15 | g.96334581G>C | CA393931537 | NR2F2 | c.948G>C (p.Lys316Asn) c.489G>C (p.Lys163Asn) c.549G>C (p.Lys183Asn) | |
| 15 | g.96334581G= | CA2198015839 | NR2F2 | c.948G= (p.Lys316=) c.489G= (p.Lys163=) c.549G= (p.Lys183=) | |
| 15 | g.96334581G>T | CA393931538 | NR2F2 | c.948G>T (p.Lys316Asn) c.489G>T (p.Lys163Asn) c.549G>T (p.Lys183Asn) | ClinVar dbSNP |
| 15 | g.96334582G>A | CA393931539 | NR2F2 | c.949G>A (p.Ala317Thr) c.490G>A (p.Ala164Thr) c.550G>A (p.Ala184Thr) | |
| 15 | g.96334582G>C | CA393931540 | NR2F2 | c.949G>C (p.Ala317Pro) c.490G>C (p.Ala164Pro) c.550G>C (p.Ala184Pro) | |
| 15 | g.96334582G>T | CA393931541 | NR2F2 | c.949G>T (p.Ala317Ser) c.490G>T (p.Ala164Ser) c.550G>T (p.Ala184Ser) | |
| 15 | g.96334583C>A | CA393931544 | NR2F2 | c.950C>A (p.Ala317Asp) c.491C>A (p.Ala164Asp) c.551C>A (p.Ala184Asp) | |
| 15 | g.96334583C= | CA2198015843 | NR2F2 | c.950C= (p.Ala317=) c.491C= (p.Ala164=) c.551C= (p.Ala184=) | |
| 15 | g.96334583C>G | CA393931542 | NR2F2 | c.950C>G (p.Ala317Gly) c.491C>G (p.Ala164Gly) c.551C>G (p.Ala184Gly) | |
| 15 | g.96334583C>T | CA393931543 | NR2F2 | c.950C>T (p.Ala317Val) c.491C>T (p.Ala164Val) c.551C>T (p.Ala184Val) | dbSNP COSMIC COSMIC |
| 15 | g.96334584C>A | CA492689933 | NR2F2 | c.951C>A (p.Ala317=) c.492C>A (p.Ala164=) c.552C>A (p.Ala184=) | |
| 15 | g.96334584C= | CA2198015848 | NR2F2 | c.951C= (p.Ala317=) c.492C= (p.Ala164=) c.552C= (p.Ala184=) | |
| 15 | g.96334584C>G | CA492689934 | NR2F2 | c.951C>G (p.Ala317=) c.492C>G (p.Ala164=) c.552C>G (p.Ala184=) | |
| 15 | g.96334584C>T | CA492689936 | NR2F2 | c.951C>T (p.Ala317=) c.492C>T (p.Ala164=) c.552C>T (p.Ala184=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.96334585A>C | CA393931545 | NR2F2 | c.952A>C (p.Ile318Leu) c.493A>C (p.Ile165Leu) c.553A>C (p.Ile185Leu) | |
| 15 | g.96334585A>G | CA393931546 | NR2F2 | c.952A>G (p.Ile318Val) c.493A>G (p.Ile165Val) c.553A>G (p.Ile185Val) | |
| 15 | g.96334585A>T | CA393931547 | NR2F2 | c.952A>T (p.Ile318Leu) c.493A>T (p.Ile165Leu) c.553A>T (p.Ile185Leu) | |
| 15 | g.96334586T>A | CA393931548 | NR2F2 | c.953T>A (p.Ile318Lys) c.494T>A (p.Ile165Lys) c.554T>A (p.Ile185Lys) | |
| 15 | g.96334586T>C | CA393931549 | NR2F2 | c.953T>C (p.Ile318Thr) c.494T>C (p.Ile165Thr) c.554T>C (p.Ile185Thr) | gnomAD v4 |
| 15 | g.96334586T>G | CA393931550 | NR2F2 | c.953T>G (p.Ile318Arg) c.494T>G (p.Ile165Arg) c.554T>G (p.Ile185Arg) | |
| 15 | g.96334587A>C | CA492689938 | NR2F2 | c.954A>C (p.Ile318=) c.495A>C (p.Ile165=) c.555A>C (p.Ile185=) | |
| 15 | g.96334587A>G | CA393931551 | NR2F2 | c.954A>G (p.Ile318Met) c.495A>G (p.Ile165Met) c.555A>G (p.Ile185Met) | |
| 15 | g.96334587A>T | CA492689939 | NR2F2 | c.954A>T (p.Ile318=) c.495A>T (p.Ile165=) c.555A>T (p.Ile185=) | |
| 15 | g.96334588G>A | CA393931552 | NR2F2 | c.955G>A (p.Val319Ile) c.496G>A (p.Val166Ile) c.556G>A (p.Val186Ile) | ClinVar |