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 |
|---|---|---|---|---|---|
| 6 | g.50818939T>A | CA450411607 | TFAP2B | c.48T>A (p.Leu16=) c.15T>A (p.Leu5=) c.140T>A (p.Leu47Ter) c.104T>A (p.Leu35Ter) | |
| 6 | g.50818939T>C | CA450411608 | TFAP2B | c.48T>C (p.Leu16=) c.15T>C (p.Leu5=) c.140T>C (p.Leu47Ser) c.104T>C (p.Leu35Ser) | dbSNP |
| 6 | g.50818939T>G | CA3850249 | TFAP2B | c.48T>G (p.Leu16=) c.15T>G (p.Leu5=) c.140T>G (p.Leu47Trp) c.104T>G (p.Leu35Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.50818939T= | CA1628063496 | TFAP2B | c.48T= (p.Leu16=) c.15T= (p.Leu5=) c.140T= (p.Leu47=) c.104T= (p.Leu35=) | |
| 6 | g.50818940G>A | CA364410010 | TFAP2B | c.49G>A (p.Val17Met) c.16G>A (p.Val6Met) c.141G>A (p.Leu47=) c.105G>A (p.Leu35=) | |
| 6 | g.50818940G>C | CA364410014 | TFAP2B | c.49G>C (p.Val17Leu) c.16G>C (p.Val6Leu) c.141G>C (p.Leu47Phe) c.105G>C (p.Leu35Phe) | |
| 6 | g.50818940G>T | CA364410018 | TFAP2B | c.49G>T (p.Val17Leu) c.16G>T (p.Val6Leu) c.141G>T (p.Leu47Phe) c.105G>T (p.Leu35Phe) | |
| 6 | g.50818941T>A | CA364410022 | TFAP2B | c.50T>A (p.Val17Glu) c.17T>A (p.Val6Glu) c.142T>A (p.Trp48Arg) c.106T>A (p.Trp36Arg) | |
| 6 | g.50818941T>C | CA364410024 | TFAP2B | c.50T>C (p.Val17Ala) c.17T>C (p.Val6Ala) c.142T>C (p.Trp48Arg) c.106T>C (p.Trp36Arg) | |
| 6 | g.50818941T>G | CA364410027 | TFAP2B | c.50T>G (p.Val17Gly) c.17T>G (p.Val6Gly) c.142T>G (p.Trp48Gly) c.106T>G (p.Trp36Gly) | |
| 6 | g.50818942G>A | CA138859468 | TFAP2B | c.51G>A (p.Val17=) c.18G>A (p.Val6=) c.143G>A (p.Trp48Ter) c.107G>A (p.Trp36Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.50818942G>C | CA450411611 | TFAP2B | c.51G>C (p.Val17=) c.18G>C (p.Val6=) c.143G>C (p.Trp48Ser) c.107G>C (p.Trp36Ser) | |
| 6 | g.50818942G= | CA1628063497 | TFAP2B | c.51G= (p.Val17=) c.18G= (p.Val6=) c.143G= (p.Trp48=) c.107G= (p.Trp36=) | |
| 6 | g.50818942G>T | CA450411612 | TFAP2B | c.51G>T (p.Val17=) c.18G>T (p.Val6=) c.143G>T (p.Trp48Leu) c.107G>T (p.Trp36Leu) | |
| 6 | g.50818943G>A | CA364410031 | TFAP2B | c.52G>A (p.Glu18Lys) c.19G>A (p.Glu7Lys) c.144G>A (p.Trp48Ter) c.108G>A (p.Trp36Ter) | |
| 6 | g.50818943G>C | CA364410034 | TFAP2B | c.52G>C (p.Glu18Gln) c.19G>C (p.Glu7Gln) c.144G>C (p.Trp48Cys) c.108G>C (p.Trp36Cys) | |
| 6 | g.50818943G>T | CA364410037 | TFAP2B | c.52G>T (p.Glu18Ter) c.19G>T (p.Glu7Ter) c.144G>T (p.Trp48Cys) c.108G>T (p.Trp36Cys) | |
| 6 | g.50818944A>C | CA364410039 | TFAP2B | c.53A>C (p.Glu18Ala) c.20A>C (p.Glu7Ala) c.145A>C (p.Arg49=) c.109A>C (p.Arg37=) | |
| 6 | g.50818944A>G | CA364410043 | TFAP2B | c.53A>G (p.Glu18Gly) c.20A>G (p.Glu7Gly) c.145A>G (p.Arg49Gly) c.109A>G (p.Arg37Gly) | |
| 6 | g.50818944A>T | CA364410047 | TFAP2B | c.53A>T (p.Glu18Val) c.20A>T (p.Glu7Val) c.145A>T (p.Arg49Ter) c.109A>T (p.Arg37Ter) | |
| 6 | g.50818945G>A | CA450411614 | TFAP2B | c.54G>A (p.Glu18=) c.21G>A (p.Glu7=) c.146G>A (p.Arg49Lys) c.110G>A (p.Arg37Lys) | |
| 6 | g.50818945G>C | CA364410052 | TFAP2B | c.54G>C (p.Glu18Asp) c.21G>C (p.Glu7Asp) c.146G>C (p.Arg49Thr) c.110G>C (p.Arg37Thr) | |
| 6 | g.50818945G>T | CA364410054 | TFAP2B | c.54G>T (p.Glu18Asp) c.21G>T (p.Glu7Asp) c.146G>T (p.Arg49Ile) c.110G>T (p.Arg37Ile) | COSMIC |
| 6 | g.50818946A>C | CA364410059 | TFAP2B | c.55A>C (p.Asn19His) c.22A>C (p.Asn8His) c.147A>C (p.Arg49Ser) c.111A>C (p.Arg37Ser) | |
| 6 | g.50818946A>G | CA364410062 | TFAP2B | c.55A>G (p.Asn19Asp) c.22A>G (p.Asn8Asp) c.147A>G (p.Arg49=) c.111A>G (p.Arg37=) | |
| 6 | g.50818946A>T | CA364410063 | TFAP2B | c.55A>T (p.Asn19Tyr) c.22A>T (p.Asn8Tyr) c.147A>T (p.Arg49Ser) c.111A>T (p.Arg37Ser) | |
| 6 | g.50818947A>C | CA364410064 | TFAP2B | c.56A>C (p.Asn19Thr) c.23A>C (p.Asn8Thr) c.148A>C (p.Met50Leu) c.112A>C (p.Met38Leu) | |
| 6 | g.50818947A>G | CA364410065 | TFAP2B | c.56A>G (p.Asn19Ser) c.23A>G (p.Asn8Ser) c.148A>G (p.Met50Val) c.112A>G (p.Met38Val) | |
| 6 | g.50818947A>T | CA364410068 | TFAP2B | c.56A>T (p.Asn19Ile) c.23A>T (p.Asn8Ile) c.148A>T (p.Met50Leu) c.112A>T (p.Met38Leu) | |
| 6 | g.50818948T>A | CA364410070 | TFAP2B | c.57T>A (p.Asn19Lys) c.24T>A (p.Asn8Lys) c.149T>A (p.Met50Lys) c.113T>A (p.Met38Lys) | |
| 6 | g.50818948T>C | CA450411617 | TFAP2B | c.57T>C (p.Asn19=) c.24T>C (p.Asn8=) c.149T>C (p.Met50Thr) c.113T>C (p.Met38Thr) | gnomAD v4 |
| 6 | g.50818948T>G | CA364410073 | TFAP2B | c.57T>G (p.Asn19Lys) c.24T>G (p.Asn8Lys) c.149T>G (p.Met50Arg) c.113T>G (p.Met38Arg) | |
| 6 | g.50818949G>A | CA364410077 | TFAP2B | c.58G>A (p.Val20Ile) c.25G>A (p.Val9Ile) c.150G>A (p.Met50Ile) c.114G>A (p.Met38Ile) | gnomAD v4 |
| 6 | g.50818949G>C | CA364410079 | TFAP2B | c.58G>C (p.Val20Leu) c.25G>C (p.Val9Leu) c.150G>C (p.Met50Ile) c.114G>C (p.Met38Ile) | |
| 6 | g.50818949G>T | CA364410085 | TFAP2B | c.58G>T (p.Val20Phe) c.25G>T (p.Val9Phe) c.150G>T (p.Met50Ile) c.114G>T (p.Met38Ile) | |
| 6 | g.50818950T>A | CA3850250 | TFAP2B | c.59T>A (p.Val20Asp) c.26T>A (p.Val9Asp) c.151T>A (p.Ser51Thr) c.115T>A (p.Ser39Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.50818950T>C | CA364410096 | TFAP2B | c.59T>C (p.Val20Ala) c.26T>C (p.Val9Ala) c.151T>C (p.Ser51Pro) c.115T>C (p.Ser39Pro) | |
| 6 | g.50818950T>G | CA364410091 | TFAP2B | c.59T>G (p.Val20Gly) c.26T>G (p.Val9Gly) c.151T>G (p.Ser51Ala) c.115T>G (p.Ser39Ala) | |
| 6 | g.50818950T= | CA1628063499 | TFAP2B | c.59T= (p.Val20=) c.26T= (p.Val9=) c.151T= (p.Ser51=) c.115T= (p.Ser39=) | |
| 6 | g.50818951C>A | CA450411624 | TFAP2B | c.60C>A (p.Val20=) c.27C>A (p.Val9=) c.152C>A (p.Ser51Ter) c.116C>A (p.Ser39Ter) | |
| 6 | g.50818951C>G | CA450411625 | TFAP2B | c.60C>G (p.Val20=) c.27C>G (p.Val9=) c.152C>G (p.Ser51Ter) c.116C>G (p.Ser39Ter) | dbSNP |
| 6 | g.50818951C>T | CA450411626 | TFAP2B | c.60C>T (p.Val20=) c.27C>T (p.Val9=) c.152C>T (p.Ser51Leu) c.116C>T (p.Ser39Leu) | |
| 6 | g.50818952A>C | CA364410099 | TFAP2B | c.61A>C (p.Lys21Gln) c.28A>C (p.Lys10Gln) c.153A>C (p.Ser51=) c.117A>C (p.Ser39=) | |
| 6 | g.50818952A>G | CA364410103 | TFAP2B | c.61A>G (p.Lys21Glu) c.28A>G (p.Lys10Glu) c.153A>G (p.Ser51=) c.117A>G (p.Ser39=) | |
| 6 | g.50818952A>T | CA364410106 | TFAP2B | c.61A>T (p.Lys21Ter) c.28A>T (p.Lys10Ter) c.153A>T (p.Ser51=) c.117A>T (p.Ser39=) | |
| 6 | g.50818953A>C | CA364410112 | TFAP2B | c.62A>C (p.Lys21Thr) c.29A>C (p.Lys10Thr) c.154A>C (p.Ser52Arg) c.118A>C (p.Ser40Arg) | |
| 6 | g.50818953A>G | CA364410115 | TFAP2B | c.62A>G (p.Lys21Arg) c.29A>G (p.Lys10Arg) c.154A>G (p.Ser52Gly) c.118A>G (p.Ser40Gly) | |
| 6 | g.50818953A>T | CA364410120 | TFAP2B | c.62A>T (p.Lys21Met) c.29A>T (p.Lys10Met) c.154A>T (p.Ser52Cys) c.118A>T (p.Ser40Cys) | |
| 6 | g.50818954G>A | CA450411627 | TFAP2B | c.63G>A (p.Lys21=) c.30G>A (p.Lys10=) c.155G>A (p.Ser52Asn) c.119G>A (p.Ser40Asn) | |
| 6 | g.50818954G>C | CA364410126 | TFAP2B | c.63G>C (p.Lys21Asn) c.30G>C (p.Lys10Asn) c.155G>C (p.Ser52Thr) c.119G>C (p.Ser40Thr) |