WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38477333C>A | CA352126067 | ACVR2B | c.99C>A (p.Asn33Lys) n.3888C>A n.103C>A c.162C>A (p.Asn54Lys) c.141C>A (p.Asn47Lys) c.117C>A (p.Asn39Lys) c.96C>A (p.Asn32Lys) | |
| 3 | g.38477333C= | CA1358528913 | ACVR2B | c.99C= (p.Asn33=) n.3888C= n.103C= c.162C= (p.Asn54=) c.141C= (p.Asn47=) c.117C= (p.Asn39=) c.96C= (p.Asn32=) | |
| 3 | g.38477333C>G | CA352126069 | ACVR2B | c.99C>G (p.Asn33Lys) n.3888C>G n.103C>G c.162C>G (p.Asn54Lys) c.141C>G (p.Asn47Lys) c.117C>G (p.Asn39Lys) c.96C>G (p.Asn32Lys) | |
| 3 | g.38477333C>T | CA2318704 | ACVR2B | c.99C>T (p.Asn33=) n.3888C>T n.103C>T c.162C>T (p.Asn54=) c.141C>T (p.Asn47=) c.117C>T (p.Asn39=) c.96C>T (p.Asn32=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38477334G>A | CA72924016 | ACVR2B | c.100G>A (p.Ala34Thr) n.3889G>A n.104G>A c.163G>A (p.Ala55Thr) c.142G>A (p.Ala48Thr) c.118G>A (p.Ala40Thr) c.97G>A (p.Ala33Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.38477334G>C | CA352126072 | ACVR2B | c.100G>C (p.Ala34Pro) n.3889G>C n.104G>C c.163G>C (p.Ala55Pro) c.142G>C (p.Ala48Pro) c.118G>C (p.Ala40Pro) c.97G>C (p.Ala33Pro) | |
| 3 | g.38477334G= | CA1358528914 | ACVR2B | c.100G= (p.Ala34=) n.3889G= n.104G= c.163G= (p.Ala55=) c.142G= (p.Ala48=) c.118G= (p.Ala40=) c.97G= (p.Ala33=) | |
| 3 | g.38477334G>T | CA352126075 | ACVR2B | c.100G>T (p.Ala34Ser) n.3889G>T n.104G>T c.163G>T (p.Ala55Ser) c.142G>T (p.Ala48Ser) c.118G>T (p.Ala40Ser) c.97G>T (p.Ala33Ser) | |
| 3 | g.38477335C>A | CA352126076 | ACVR2B | c.101C>A (p.Ala34Asp) n.3890C>A n.105C>A c.164C>A (p.Ala55Asp) c.143C>A (p.Ala48Asp) c.119C>A (p.Ala40Asp) c.98C>A (p.Ala33Asp) | |
| 3 | g.38477335C>G | CA352126081 | ACVR2B | c.101C>G (p.Ala34Gly) n.3890C>G n.105C>G c.164C>G (p.Ala55Gly) c.143C>G (p.Ala48Gly) c.119C>G (p.Ala40Gly) c.98C>G (p.Ala33Gly) | |
| 3 | g.38477335C>T | CA352126078 | ACVR2B | c.101C>T (p.Ala34Val) n.3890C>T n.105C>T c.164C>T (p.Ala55Val) c.143C>T (p.Ala48Val) c.119C>T (p.Ala40Val) c.98C>T (p.Ala33Val) | |
| 3 | g.38477336C>A | CA433137370 | ACVR2B | c.102C>A (p.Ala34=) n.3891C>A n.106C>A c.165C>A (p.Ala55=) c.144C>A (p.Ala48=) c.120C>A (p.Ala40=) c.99C>A (p.Ala33=) | |
| 3 | g.38477336C>G | CA433137371 | ACVR2B | c.102C>G (p.Ala34=) n.3891C>G n.106C>G c.165C>G (p.Ala55=) c.144C>G (p.Ala48=) c.120C>G (p.Ala40=) c.99C>G (p.Ala33=) | |
| 3 | g.38477336C>T | CA433137372 | ACVR2B | c.102C>T (p.Ala34=) n.3891C>T n.106C>T c.165C>T (p.Ala55=) c.144C>T (p.Ala48=) c.120C>T (p.Ala40=) c.99C>T (p.Ala33=) | gnomAD v4 |
| 3 | g.38477337A>C | CA352126084 | ACVR2B | c.103A>C (p.Asn35His) n.3892A>C n.107A>C c.166A>C (p.Asn56His) c.145A>C (p.Asn49His) c.121A>C (p.Asn41His) c.100A>C (p.Asn34His) | |
| 3 | g.38477337A>G | CA352126088 | ACVR2B | c.103A>G (p.Asn35Asp) n.3892A>G n.107A>G c.166A>G (p.Asn56Asp) c.145A>G (p.Asn49Asp) c.121A>G (p.Asn41Asp) c.100A>G (p.Asn34Asp) | |
| 3 | g.38477337A>T | CA352126086 | ACVR2B | c.103A>T (p.Asn35Tyr) n.3892A>T n.107A>T c.166A>T (p.Asn56Tyr) c.145A>T (p.Asn49Tyr) c.121A>T (p.Asn41Tyr) c.100A>T (p.Asn34Tyr) | |
| 3 | g.38477338A>C | CA352126090 | ACVR2B | c.104A>C (p.Asn35Thr) n.3893A>C n.108A>C c.167A>C (p.Asn56Thr) c.146A>C (p.Asn49Thr) c.122A>C (p.Asn41Thr) c.101A>C (p.Asn34Thr) | |
| 3 | g.38477338A>G | CA352126094 | ACVR2B | c.104A>G (p.Asn35Ser) n.3893A>G n.108A>G c.167A>G (p.Asn56Ser) c.146A>G (p.Asn49Ser) c.122A>G (p.Asn41Ser) c.101A>G (p.Asn34Ser) | gnomAD v4 |
| 3 | g.38477338A>T | CA352126093 | ACVR2B | c.104A>T (p.Asn35Ile) n.3893A>T n.108A>T c.167A>T (p.Asn56Ile) c.146A>T (p.Asn49Ile) c.122A>T (p.Asn41Ile) c.101A>T (p.Asn34Ile) | |
| 3 | g.38477339C>A | CA352126096 | ACVR2B | c.105C>A (p.Asn35Lys) n.3894C>A n.109C>A c.168C>A (p.Asn56Lys) c.147C>A (p.Asn49Lys) c.123C>A (p.Asn41Lys) c.102C>A (p.Asn34Lys) | |
| 3 | g.38477339C>G | CA352126099 | ACVR2B | c.105C>G (p.Asn35Lys) n.3894C>G n.109C>G c.168C>G (p.Asn56Lys) c.147C>G (p.Asn49Lys) c.123C>G (p.Asn41Lys) c.102C>G (p.Asn34Lys) | |
| 3 | g.38477339C>T | CA433137373 | ACVR2B | c.105C>T (p.Asn35=) n.3894C>T n.109C>T c.168C>T (p.Asn56=) c.147C>T (p.Asn49=) c.123C>T (p.Asn41=) c.102C>T (p.Asn34=) | gnomAD v4 |
| 3 | g.38477340T>A | CA352126100 | ACVR2B | c.106T>A (p.Trp36Arg) n.3895T>A n.110T>A c.169T>A (p.Trp57Arg) c.148T>A (p.Trp50Arg) c.124T>A (p.Trp42Arg) c.103T>A (p.Trp35Arg) | |
| 3 | g.38477340T>C | CA352126102 | ACVR2B | c.106T>C (p.Trp36Arg) n.3895T>C n.110T>C c.169T>C (p.Trp57Arg) c.148T>C (p.Trp50Arg) c.124T>C (p.Trp42Arg) c.103T>C (p.Trp35Arg) | |
| 3 | g.38477340T>G | CA352126106 | ACVR2B | c.106T>G (p.Trp36Gly) n.3895T>G n.110T>G c.169T>G (p.Trp57Gly) c.148T>G (p.Trp50Gly) c.124T>G (p.Trp42Gly) c.103T>G (p.Trp35Gly) | |
| 3 | g.38477341G>A | CA352126111 | ACVR2B | c.107G>A (p.Trp36Ter) n.3896G>A n.111G>A c.170G>A (p.Trp57Ter) c.149G>A (p.Trp50Ter) c.125G>A (p.Trp42Ter) c.104G>A (p.Trp35Ter) | |
| 3 | g.38477341G>C | CA352126109 | ACVR2B | c.107G>C (p.Trp36Ser) n.3896G>C n.111G>C c.170G>C (p.Trp57Ser) c.149G>C (p.Trp50Ser) c.125G>C (p.Trp42Ser) c.104G>C (p.Trp35Ser) | |
| 3 | g.38477341G>T | CA352126108 | ACVR2B | c.107G>T (p.Trp36Leu) n.3896G>T n.111G>T c.170G>T (p.Trp57Leu) c.149G>T (p.Trp50Leu) c.125G>T (p.Trp42Leu) c.104G>T (p.Trp35Leu) | |
| 3 | g.38477342G>A | CA352126114 | ACVR2B | c.108G>A (p.Trp36Ter) n.3897G>A n.112G>A c.171G>A (p.Trp57Ter) c.150G>A (p.Trp50Ter) c.126G>A (p.Trp42Ter) c.105G>A (p.Trp35Ter) | |
| 3 | g.38477342G>C | CA352126117 | ACVR2B | c.108G>C (p.Trp36Cys) n.3897G>C n.112G>C c.171G>C (p.Trp57Cys) c.150G>C (p.Trp50Cys) c.126G>C (p.Trp42Cys) c.105G>C (p.Trp35Cys) | |
| 3 | g.38477342G>T | CA352126119 | ACVR2B | c.108G>T (p.Trp36Cys) n.3897G>T n.112G>T c.171G>T (p.Trp57Cys) c.150G>T (p.Trp50Cys) c.126G>T (p.Trp42Cys) c.105G>T (p.Trp35Cys) | |
| 3 | g.38477343G>A | CA352126121 | ACVR2B | c.109G>A (p.Glu37Lys) n.3898G>A n.113G>A c.172G>A (p.Glu58Lys) c.151G>A (p.Glu51Lys) c.127G>A (p.Glu43Lys) c.106G>A (p.Glu36Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38477343G>C | CA352126124 | ACVR2B | c.109G>C (p.Glu37Gln) n.3898G>C n.113G>C c.172G>C (p.Glu58Gln) c.151G>C (p.Glu51Gln) c.127G>C (p.Glu43Gln) c.106G>C (p.Glu36Gln) | |
| 3 | g.38477343G= | CA1358528915 | ACVR2B | c.109G= (p.Glu37=) n.3898G= n.113G= c.172G= (p.Glu58=) c.151G= (p.Glu51=) c.127G= (p.Glu43=) c.106G= (p.Glu36=) | |
| 3 | g.38477343G>T | CA352126127 | ACVR2B | c.109G>T (p.Glu37Ter) n.3898G>T n.113G>T c.172G>T (p.Glu58Ter) c.151G>T (p.Glu51Ter) c.127G>T (p.Glu43Ter) c.106G>T (p.Glu36Ter) | |
| 3 | g.38477344A>C | CA352126130 | ACVR2B | c.110A>C (p.Glu37Ala) n.3899A>C n.114A>C c.173A>C (p.Glu58Ala) c.152A>C (p.Glu51Ala) c.128A>C (p.Glu43Ala) c.107A>C (p.Glu36Ala) | |
| 3 | g.38477344A>G | CA352126134 | ACVR2B | c.110A>G (p.Glu37Gly) n.3899A>G n.114A>G c.173A>G (p.Glu58Gly) c.152A>G (p.Glu51Gly) c.128A>G (p.Glu43Gly) c.107A>G (p.Glu36Gly) | |
| 3 | g.38477344A>T | CA352126131 | ACVR2B | c.110A>T (p.Glu37Val) n.3899A>T n.114A>T c.173A>T (p.Glu58Val) c.152A>T (p.Glu51Val) c.128A>T (p.Glu43Val) c.107A>T (p.Glu36Val) | |
| 3 | g.38477345G>A | CA433137374 | ACVR2B | c.111G>A (p.Glu37=) n.3900G>A n.115G>A c.174G>A (p.Glu58=) c.153G>A (p.Glu51=) c.129G>A (p.Glu43=) c.108G>A (p.Glu36=) | |
| 3 | g.38477345G>C | CA352126136 | ACVR2B | c.111G>C (p.Glu37Asp) n.3900G>C n.115G>C c.174G>C (p.Glu58Asp) c.153G>C (p.Glu51Asp) c.129G>C (p.Glu43Asp) c.108G>C (p.Glu36Asp) | |
| 3 | g.38477345G>T | CA352126138 | ACVR2B | c.111G>T (p.Glu37Asp) n.3900G>T n.115G>T c.174G>T (p.Glu58Asp) c.153G>T (p.Glu51Asp) c.129G>T (p.Glu43Asp) c.108G>T (p.Glu36Asp) | |
| 3 | g.38477346C>A | CA352126140 | ACVR2B | c.112C>A (p.Leu38Met) n.3901C>A n.116C>A c.175C>A (p.Leu59Met) c.154C>A (p.Leu52Met) c.130C>A (p.Leu44Met) c.109C>A (p.Leu37Met) | COSMIC COSMIC |
| 3 | g.38477346C= | CA1358528916 | ACVR2B | c.112C= (p.Leu38=) n.3901C= n.116C= c.175C= (p.Leu59=) c.154C= (p.Leu52=) c.130C= (p.Leu44=) c.109C= (p.Leu37=) | |
| 3 | g.38477346C>G | CA352126142 | ACVR2B | c.112C>G (p.Leu38Val) n.3901C>G n.116C>G c.175C>G (p.Leu59Val) c.154C>G (p.Leu52Val) c.130C>G (p.Leu44Val) c.109C>G (p.Leu37Val) | |
| 3 | g.38477346C>T | CA2318705 | ACVR2B | c.112C>T (p.Leu38=) n.3901C>T n.116C>T c.175C>T (p.Leu59=) c.154C>T (p.Leu52=) c.130C>T (p.Leu44=) c.109C>T (p.Leu37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38477347T>A | CA352126146 | ACVR2B | c.113T>A (p.Leu38Gln) n.3902T>A n.117T>A c.176T>A (p.Leu59Gln) c.155T>A (p.Leu52Gln) c.131T>A (p.Leu44Gln) c.110T>A (p.Leu37Gln) | |
| 3 | g.38477347T>C | CA352126147 | ACVR2B | c.113T>C (p.Leu38Pro) n.3902T>C n.117T>C c.176T>C (p.Leu59Pro) c.155T>C (p.Leu52Pro) c.131T>C (p.Leu44Pro) c.110T>C (p.Leu37Pro) | |
| 3 | g.38477347T>G | CA352126150 | ACVR2B | c.113T>G (p.Leu38Arg) n.3902T>G n.117T>G c.176T>G (p.Leu59Arg) c.155T>G (p.Leu52Arg) c.131T>G (p.Leu44Arg) c.110T>G (p.Leu37Arg) | |
| 3 | g.38477348G>A | CA433137375 | ACVR2B | c.114G>A (p.Leu38=) n.3903G>A n.118G>A c.177G>A (p.Leu59=) c.156G>A (p.Leu52=) c.132G>A (p.Leu44=) c.111G>A (p.Leu37=) |