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 |
|---|---|---|---|---|---|
| 1 | g.161674017_161674037dup | CA1008429688 | FCGR2B | c.704_724dup (p.Val241_Val242insAlaAlaIleValAlaAlaVal) c.683_703dup (p.Val234_Val235insAlaAlaIleValAlaAlaVal) n.754_774dup n.2072_2092dup c.701_721dup (p.Val240_Val241insAlaAlaIleValAlaAlaVal) c.680_700dup (p.Val233_Val234insAlaAlaIleValAlaAlaVal) n.933_953dup | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161674037_161674038insCGGCCATTTTTGCTGCTGTAG | CA526888620 | FCGR2B | c.724_725insCGGCCATTTTTGCTGCTGTAG (p.Val241_Val242insAlaAlaIlePheAlaAlaVal) c.703_704insCGGCCATTTTTGCTGCTGTAG (p.Val234_Val235insAlaAlaIlePheAlaAlaVal) n.774_775insCGGCCATTTTTGCTGCTGTAG n.2092_2093insCGGCCATTTTTGCTGCTGTAG c.721_722insCGGCCATTTTTGCTGCTGTAG (p.Val240_Val241insAlaAlaIlePheAlaAlaVal) c.700_701insCGGCCATTTTTGCTGCTGTAG (p.Val233_Val234insAlaAlaIlePheAlaAlaVal) n.953_954insCGGCCATTTTTGCTGCTGTAG | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.161674029C>A | CA343367848 | FCGR2B | c.716C>A (p.Ala239Asp) c.695C>A (p.Ala232Asp) n.766C>A n.2084C>A c.713C>A (p.Ala238Asp) c.692C>A (p.Ala231Asp) n.945C>A | |
| 1 | g.161674029C>G | CA343367861 | FCGR2B | c.716C>G (p.Ala239Gly) c.695C>G (p.Ala232Gly) n.766C>G n.2084C>G c.713C>G (p.Ala238Gly) c.692C>G (p.Ala231Gly) n.945C>G | |
| 1 | g.161674029C>T | CA343367863 | FCGR2B | c.716C>T (p.Ala239Val) c.695C>T (p.Ala232Val) n.766C>T n.2084C>T c.713C>T (p.Ala238Val) c.692C>T (p.Ala231Val) n.945C>T | |
| 1 | g.161674030T>A | CA421420597 | FCGR2B | c.717T>A (p.Ala239=) c.696T>A (p.Ala232=) n.767T>A n.2085T>A c.714T>A (p.Ala238=) c.693T>A (p.Ala231=) n.946T>A | |
| 1 | g.161674030T>C | CA421420599 | FCGR2B | c.717T>C (p.Ala239=) c.696T>C (p.Ala232=) n.767T>C n.2085T>C c.714T>C (p.Ala238=) c.693T>C (p.Ala231=) n.946T>C | dbSNP gnomAD v4 |
| 1 | g.161674030T>G | CA421420600 | FCGR2B | c.717T>G (p.Ala239=) c.696T>G (p.Ala232=) n.767T>G n.2085T>G c.714T>G (p.Ala238=) c.693T>G (p.Ala231=) n.946T>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.161674030T= | CA1202839767 | FCGR2B | c.717T= (p.Ala239=) c.696T= (p.Ala232=) n.767T= n.2085T= c.714T= (p.Ala238=) c.693T= (p.Ala231=) n.946T= | |
| 1 | g.161674031G>A | CA343367866 | FCGR2B | c.718G>A (p.Ala240Thr) c.697G>A (p.Ala233Thr) n.768G>A n.2086G>A c.715G>A (p.Ala239Thr) c.694G>A (p.Ala232Thr) n.947G>A | dbSNP |
| 1 | g.161674031G>C | CA343367867 | FCGR2B | c.718G>C (p.Ala240Pro) c.697G>C (p.Ala233Pro) n.768G>C n.2086G>C c.715G>C (p.Ala239Pro) c.694G>C (p.Ala232Pro) n.947G>C | |
| 1 | g.161674031G= | CA1202839768 | FCGR2B | c.718G= (p.Ala240=) c.697G= (p.Ala233=) n.768G= n.2086G= c.715G= (p.Ala239=) c.694G= (p.Ala232=) n.947G= | |
| 1 | g.161674031G>T | CA343367868 | FCGR2B | c.718G>T (p.Ala240Ser) c.697G>T (p.Ala233Ser) n.768G>T n.2086G>T c.715G>T (p.Ala239Ser) c.694G>T (p.Ala232Ser) n.947G>T | |
| 1 | g.161674032C>A | CA343367873 | FCGR2B | c.719C>A (p.Ala240Asp) c.698C>A (p.Ala233Asp) n.769C>A n.2087C>A c.716C>A (p.Ala239Asp) c.695C>A (p.Ala232Asp) n.948C>A | |
| 1 | g.161674032C>G | CA343367877 | FCGR2B | c.719C>G (p.Ala240Gly) c.698C>G (p.Ala233Gly) n.769C>G n.2087C>G c.716C>G (p.Ala239Gly) c.695C>G (p.Ala232Gly) n.948C>G | |
| 1 | g.161674032C>T | CA343367878 | FCGR2B | c.719C>T (p.Ala240Val) c.698C>T (p.Ala233Val) n.769C>T n.2087C>T c.716C>T (p.Ala239Val) c.695C>T (p.Ala232Val) n.948C>T | |
| 1 | g.161674033T>A | CA421420610 | FCGR2B | c.720T>A (p.Ala240=) c.699T>A (p.Ala233=) n.770T>A n.2088T>A c.717T>A (p.Ala239=) c.696T>A (p.Ala232=) n.949T>A | |
| 1 | g.161674033T>C | CA421420611 | FCGR2B | c.720T>C (p.Ala240=) c.699T>C (p.Ala233=) n.770T>C n.2088T>C c.717T>C (p.Ala239=) c.696T>C (p.Ala232=) n.949T>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161674033T>G | CA421420613 | FCGR2B | c.720T>G (p.Ala240=) c.699T>G (p.Ala233=) n.770T>G n.2088T>G c.717T>G (p.Ala239=) c.696T>G (p.Ala232=) n.949T>G | |
| 1 | g.161674033T= | CA1202839769 | FCGR2B | c.720T= (p.Ala240=) c.699T= (p.Ala233=) n.770T= n.2088T= c.717T= (p.Ala239=) c.696T= (p.Ala232=) n.949T= | |
| 1 | g.161674034G>A | CA343367882 | FCGR2B | c.721G>A (p.Val241Ile) c.700G>A (p.Val234Ile) n.771G>A n.2089G>A c.718G>A (p.Val240Ile) c.697G>A (p.Val233Ile) n.950G>A | |
| 1 | g.161674034G>C | CA343367884 | FCGR2B | c.721G>C (p.Val241Leu) c.700G>C (p.Val234Leu) n.771G>C n.2089G>C c.718G>C (p.Val240Leu) c.697G>C (p.Val233Leu) n.950G>C | |
| 1 | g.161674034G>T | CA343367896 | FCGR2B | c.721G>T (p.Val241Leu) c.700G>T (p.Val234Leu) n.771G>T n.2089G>T c.718G>T (p.Val240Leu) c.697G>T (p.Val233Leu) n.950G>T | |
| 1 | g.161674035T>A | CA343367910 | FCGR2B | c.722T>A (p.Val241Glu) c.701T>A (p.Val234Glu) n.772T>A n.2090T>A c.719T>A (p.Val240Glu) c.698T>A (p.Val233Glu) n.951T>A | |
| 1 | g.161674035T>C | CA343367904 | FCGR2B | c.722T>C (p.Val241Ala) c.701T>C (p.Val234Ala) n.772T>C n.2090T>C c.719T>C (p.Val240Ala) c.698T>C (p.Val233Ala) n.951T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161674035T>G | CA343367901 | FCGR2B | c.722T>G (p.Val241Gly) c.701T>G (p.Val234Gly) n.772T>G n.2090T>G c.719T>G (p.Val240Gly) c.698T>G (p.Val233Gly) n.951T>G | |
| 1 | g.161674035T= | CA1202839770 | FCGR2B | c.722T= (p.Val241=) c.701T= (p.Val234=) n.772T= n.2090T= c.719T= (p.Val240=) c.698T= (p.Val233=) n.951T= | |
| 1 | g.161674036A>C | CA421420618 | FCGR2B | c.723A>C (p.Val241=) c.702A>C (p.Val234=) n.773A>C n.2091A>C c.720A>C (p.Val240=) c.699A>C (p.Val233=) n.952A>C | |
| 1 | g.161674036A>G | CA421420619 | FCGR2B | c.723A>G (p.Val241=) c.702A>G (p.Val234=) n.773A>G n.2091A>G c.720A>G (p.Val240=) c.699A>G (p.Val233=) n.952A>G | |
| 1 | g.161674036A>T | CA421420621 | FCGR2B | c.723A>T (p.Val241=) c.702A>T (p.Val234=) n.773A>T n.2091A>T c.720A>T (p.Val240=) c.699A>T (p.Val233=) n.952A>T | |
| 1 | g.161674037G>A | CA343367929 | FCGR2B | c.724G>A (p.Val242Met) c.703G>A (p.Val235Met) n.774G>A n.2092G>A c.721G>A (p.Val241Met) c.700G>A (p.Val234Met) n.953G>A | |
| 1 | g.161674037G>C | CA343367917 | FCGR2B | c.724G>C (p.Val242Leu) c.703G>C (p.Val235Leu) n.774G>C n.2092G>C c.721G>C (p.Val241Leu) c.700G>C (p.Val234Leu) n.953G>C | |
| 1 | g.161674037G>T | CA343367927 | FCGR2B | c.724G>T (p.Val242Leu) c.703G>T (p.Val235Leu) n.774G>T n.2092G>T c.721G>T (p.Val241Leu) c.700G>T (p.Val234Leu) n.953G>T | |
| 1 | g.161674038T>A | CA343367932 | FCGR2B | c.725T>A (p.Val242Glu) c.704T>A (p.Val235Glu) n.775T>A n.2093T>A c.722T>A (p.Val241Glu) c.701T>A (p.Val234Glu) n.954T>A | |
| 1 | g.161674038T>C | CA31694575 | FCGR2B | c.725T>C (p.Val242Ala) c.704T>C (p.Val235Ala) n.775T>C n.2093T>C c.722T>C (p.Val241Ala) c.701T>C (p.Val234Ala) n.954T>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161674038T>G | CA343367957 | FCGR2B | c.725T>G (p.Val242Gly) c.704T>G (p.Val235Gly) n.775T>G n.2093T>G c.722T>G (p.Val241Gly) c.701T>G (p.Val234Gly) n.954T>G | |
| 1 | g.161674038T= | CA1202839771 | FCGR2B | c.725T= (p.Val242=) c.704T= (p.Val235=) n.775T= n.2093T= c.722T= (p.Val241=) c.701T= (p.Val234=) n.954T= | |
| 1 | g.161674039G>A | CA421420633 | FCGR2B | c.726G>A (p.Val242=) c.705G>A (p.Val235=) n.776G>A n.2094G>A c.723G>A (p.Val241=) c.702G>A (p.Val234=) n.955G>A | |
| 1 | g.161674039G>C | CA421420635 | FCGR2B | c.726G>C (p.Val242=) c.705G>C (p.Val235=) n.776G>C n.2094G>C c.723G>C (p.Val241=) c.702G>C (p.Val234=) n.955G>C | |
| 1 | g.161674039G>T | CA421420637 | FCGR2B | c.726G>T (p.Val242=) c.705G>T (p.Val235=) n.776G>T n.2094G>T c.723G>T (p.Val241=) c.702G>T (p.Val234=) n.955G>T | |
| 1 | g.161674040G>A | CA343367960 | FCGR2B | c.727G>A (p.Ala243Thr) c.706G>A (p.Ala236Thr) n.777G>A n.2095G>A c.724G>A (p.Ala242Thr) c.703G>A (p.Ala235Thr) n.956G>A | dbSNP |
| 1 | g.161674040G>C | CA343367964 | FCGR2B | c.727G>C (p.Ala243Pro) c.706G>C (p.Ala236Pro) n.777G>C n.2095G>C c.724G>C (p.Ala242Pro) c.703G>C (p.Ala235Pro) n.956G>C | |
| 1 | g.161674040G= | CA1202839772 | FCGR2B | c.727G= (p.Ala243=) c.706G= (p.Ala236=) n.777G= n.2095G= c.724G= (p.Ala242=) c.703G= (p.Ala235=) n.956G= | |
| 1 | g.161674040G>T | CA343367967 | FCGR2B | c.727G>T (p.Ala243Ser) c.706G>T (p.Ala236Ser) n.777G>T n.2095G>T c.724G>T (p.Ala242Ser) c.703G>T (p.Ala235Ser) n.956G>T | |
| 1 | g.161674041C>A | CA343367970 | FCGR2B | c.728C>A (p.Ala243Asp) c.707C>A (p.Ala236Asp) n.778C>A n.2096C>A c.725C>A (p.Ala242Asp) c.704C>A (p.Ala235Asp) n.957C>A | |
| 1 | g.161674041C>G | CA343367972 | FCGR2B | c.728C>G (p.Ala243Gly) c.707C>G (p.Ala236Gly) n.778C>G n.2096C>G c.725C>G (p.Ala242Gly) c.704C>G (p.Ala235Gly) n.957C>G | |
| 1 | g.161674041C>T | CA343367973 | FCGR2B | c.728C>T (p.Ala243Val) c.707C>T (p.Ala236Val) n.778C>T n.2096C>T c.725C>T (p.Ala242Val) c.704C>T (p.Ala235Val) n.957C>T | |
| 1 | g.161674042C>A | CA421420647 | FCGR2B | c.729C>A (p.Ala243=) c.708C>A (p.Ala236=) n.779C>A n.2097C>A c.726C>A (p.Ala242=) c.705C>A (p.Ala235=) n.958C>A | |
| 1 | g.161674042C>G | CA421420649 | FCGR2B | c.729C>G (p.Ala243=) c.708C>G (p.Ala236=) n.779C>G n.2097C>G c.726C>G (p.Ala242=) c.705C>G (p.Ala235=) n.958C>G | |
| 1 | g.161674042C>T | CA421420651 | FCGR2B | c.729C>T (p.Ala243=) c.708C>T (p.Ala236=) n.779C>T n.2097C>T c.726C>T (p.Ala242=) c.705C>T (p.Ala235=) n.958C>T |