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.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 | |
| 1 | g.161674042_161674043insATTT | CA2648801937 | FCGR2B | c.729_730insATTT (p.Leu244IlefsTer18) c.729_730insATTT (p.Leu244IlefsTer16) c.708_709insATTT (p.Leu237IlefsTer18) n.779_780insATTT n.2097_2098insATTT c.726_727insATTT (p.Leu243IlefsTer16) c.726_727insATTT (p.Leu243IlefsTer18) c.705_706insATTT (p.Leu236IlefsTer18) c.708_709insATTT (p.Leu237IlefsTer16) c.705_706insATTT (p.Leu236IlefsTer16) c.729_730insATTT (p.Leu244IlefsTer?) c.708_709insATTT (p.Leu237IlefsTer?) n.958_959insATTT | gnomAD v4 |
| 1 | g.161674043T>A | CA343367978 | FCGR2B | c.730T>A (p.Leu244Met) c.709T>A (p.Leu237Met) n.780T>A n.2098T>A c.727T>A (p.Leu243Met) c.706T>A (p.Leu236Met) n.959T>A | |
| 1 | g.161674043T>C | CA421420655 | FCGR2B | c.730T>C (p.Leu244=) c.709T>C (p.Leu237=) n.780T>C n.2098T>C c.727T>C (p.Leu243=) c.706T>C (p.Leu236=) n.959T>C | |
| 1 | g.161674043T>G | CA343367980 | FCGR2B | c.730T>G (p.Leu244Val) c.709T>G (p.Leu237Val) n.780T>G n.2098T>G c.727T>G (p.Leu243Val) c.706T>G (p.Leu236Val) n.959T>G | |
| 1 | g.161674044T>A | CA343367989 | FCGR2B | c.731T>A (p.Leu244Ter) c.710T>A (p.Leu237Ter) n.781T>A n.2099T>A c.728T>A (p.Leu243Ter) c.707T>A (p.Leu236Ter) n.960T>A | |
| 1 | g.161674044T>C | CA343367982 | FCGR2B | c.731T>C (p.Leu244Ser) c.710T>C (p.Leu237Ser) n.781T>C n.2099T>C c.728T>C (p.Leu243Ser) c.707T>C (p.Leu236Ser) n.960T>C | |
| 1 | g.161674044T>G | CA343367985 | FCGR2B | c.731T>G (p.Leu244Trp) c.710T>G (p.Leu237Trp) n.781T>G n.2099T>G c.728T>G (p.Leu243Trp) c.707T>G (p.Leu236Trp) n.960T>G | |
| 1 | g.161674045G>A | CA421420661 | FCGR2B | c.732G>A (p.Leu244=) c.711G>A (p.Leu237=) n.782G>A n.2100G>A c.729G>A (p.Leu243=) c.708G>A (p.Leu236=) n.961G>A | |
| 1 | g.161674045G>C | CA343367994 | FCGR2B | c.732G>C (p.Leu244Phe) c.711G>C (p.Leu237Phe) n.782G>C n.2100G>C c.729G>C (p.Leu243Phe) c.708G>C (p.Leu236Phe) n.961G>C | |
| 1 | g.161674045G>T | CA343368007 | FCGR2B | c.732G>T (p.Leu244Phe) c.711G>T (p.Leu237Phe) n.782G>T n.2100G>T c.729G>T (p.Leu243Phe) c.708G>T (p.Leu236Phe) n.961G>T | |
| 1 | g.161674046A>C | CA343368011 | FCGR2B | c.733A>C (p.Ile245Leu) c.712A>C (p.Ile238Leu) n.783A>C n.2101A>C c.730A>C (p.Ile244Leu) c.709A>C (p.Ile237Leu) n.962A>C | |
| 1 | g.161674046A>G | CA343368014 | FCGR2B | c.733A>G (p.Ile245Val) c.712A>G (p.Ile238Val) n.783A>G n.2101A>G c.730A>G (p.Ile244Val) c.709A>G (p.Ile237Val) n.962A>G | |
| 1 | g.161674046A>T | CA343368019 | FCGR2B | c.733A>T (p.Ile245Phe) c.712A>T (p.Ile238Phe) n.783A>T n.2101A>T c.730A>T (p.Ile244Phe) c.709A>T (p.Ile237Phe) n.962A>T | gnomAD v4 |
| 1 | g.161674047T>A | CA343368022 | FCGR2B | c.734T>A (p.Ile245Asn) c.713T>A (p.Ile238Asn) n.784T>A n.2102T>A c.731T>A (p.Ile244Asn) c.710T>A (p.Ile237Asn) n.963T>A | |
| 1 | g.161674047T>C | CA343368025 | FCGR2B | c.734T>C (p.Ile245Thr) c.713T>C (p.Ile238Thr) n.784T>C n.2102T>C c.731T>C (p.Ile244Thr) c.710T>C (p.Ile237Thr) n.963T>C | |
| 1 | g.161674047T>G | CA343368027 | FCGR2B | c.734T>G (p.Ile245Ser) c.713T>G (p.Ile238Ser) n.784T>G n.2102T>G c.731T>G (p.Ile244Ser) c.710T>G (p.Ile237Ser) n.963T>G | |
| 1 | g.161674048C>A | CA421420673 | FCGR2B | c.735C>A (p.Ile245=) c.714C>A (p.Ile238=) n.785C>A n.2103C>A c.732C>A (p.Ile244=) c.711C>A (p.Ile237=) n.964C>A | |
| 1 | g.161674048C>G | CA343368030 | FCGR2B | c.735C>G (p.Ile245Met) c.714C>G (p.Ile238Met) n.785C>G n.2103C>G c.732C>G (p.Ile244Met) c.711C>G (p.Ile237Met) n.964C>G | gnomAD v4 |