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 |
|---|---|---|---|---|---|
| 11 | g.5254312C>A | CA379264123 | HBG2 | c.295G>T (p.Val99Leu) c.130G>T (p.Val44Leu) c.265G>T (p.Val89Leu) c.*164G>T (n.*164G>T) c.60C>A (p.His20Gln) | |
| 11 | g.5254312C>G | CA379264124 | HBG2 | c.295G>C (p.Val99Leu) c.130G>C (p.Val44Leu) c.265G>C (p.Val89Leu) c.*164G>C (n.*164G>C) c.60C>G (p.His20Gln) | |
| 11 | g.5254312C>T | CA379264125 | HBG2 | c.295G>A (p.Val99Met) c.130G>A (p.Val44Met) c.265G>A (p.Val89Met) c.*164G>A (n.*164G>A) c.60C>T (p.His20=) | COSMIC |
| 11 | g.5254313A>C | CA379264126 | HBG2 | c.294T>G (p.His98Gln) c.129T>G (p.His43Gln) c.264T>G (p.His88Gln) c.*163T>G (n.*163T>G) c.61A>C (p.Met21Leu) | gnomAD v4 |
| 11 | g.5254313A>G | CA379264127 | HBG2 | c.294T>C (p.His98=) c.129T>C (p.His43=) c.264T>C (p.His88=) c.*163T>C (n.*163T>C) c.61A>G (p.Met21Val) | gnomAD v4 |
| 11 | g.5254313A>T | CA379264128 | HBG2 | c.294T>A (p.His98Gln) c.129T>A (p.His43Gln) c.264T>A (p.His88Gln) c.*163T>A (n.*163T>A) c.61A>T (p.Met21Leu) | |
| 11 | g.5254314T>A | CA379264129 | HBG2 | c.293A>T (p.His98Leu) c.128A>T (p.His43Leu) c.263A>T (p.His88Leu) c.*162A>T (n.*162A>T) c.62T>A (p.Met21Lys) | COSMIC |
| 11 | g.5254314T>C | CA217121199 | HBG2 | c.293A>G (p.His98Arg) c.128A>G (p.His43Arg) c.263A>G (p.His88Arg) c.*162A>G (n.*162A>G) c.62T>C (p.Met21Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5254314T>G | CA379264130 | HBG2 | c.293A>C (p.His98Pro) c.128A>C (p.His43Pro) c.263A>C (p.His88Pro) c.*162A>C (n.*162A>C) c.62T>G (p.Met21Arg) | |
| 11 | g.5254314T= | CA1949577245 | HBG2 | c.293A= (p.His98=) c.128A= (p.His43=) c.263A= (p.His88=) c.*162A= (n.*162A=) c.62T= (p.Met21=) | |
| 11 | g.5254315G>A | CA379264131 | HBG2 | c.292C>T (p.His98Tyr) c.127C>T (p.His43Tyr) c.262C>T (p.His88Tyr) c.*161C>T (n.*161C>T) c.63G>A (p.Met21Ile) | |
| 11 | g.5254315G>C | CA379264133 | HBG2 | c.292C>G (p.His98Asp) c.127C>G (p.His43Asp) c.262C>G (p.His88Asp) c.*161C>G (n.*161C>G) c.63G>C (p.Met21Ile) | |
| 11 | g.5254315G>T | CA379264132 | HBG2 | c.292C>A (p.His98Asn) c.127C>A (p.His43Asn) c.262C>A (p.His88Asn) c.*161C>A (n.*161C>A) c.63G>T (p.Met21Ile) | gnomAD v4 |
| 11 | g.5254316C>A | CA379264134 | HBG2 | c.291G>T (p.Leu97=) c.126G>T (p.Leu42=) c.261G>T (p.Leu87=) c.*160G>T (n.*160G>T) c.64C>A (p.Gln22Lys) | |
| 11 | g.5254316C= | CA1949577253 | HBG2 | c.291G= (p.Leu97=) c.126G= (p.Leu42=) c.261G= (p.Leu87=) c.*160G= (n.*160G=) c.64C= (p.Gln22=) | |
| 11 | g.5254316C>G | CA379264135 | HBG2 | c.291G>C (p.Leu97=) c.126G>C (p.Leu42=) c.261G>C (p.Leu87=) c.*160G>C (n.*160G>C) c.64C>G (p.Gln22Glu) | |
| 11 | g.5254316C>T | CA5840253 | HBG2 | c.291G>A (p.Leu97=) c.126G>A (p.Leu42=) c.261G>A (p.Leu87=) c.*160G>A (n.*160G>A) c.64C>T (p.Gln22Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5254317A>C | CA379264136 | HBG2 | c.290T>G (p.Leu97Arg) c.125T>G (p.Leu42Arg) c.260T>G (p.Leu87Arg) c.*159T>G (n.*159T>G) c.65A>C (p.Gln22Pro) | |
| 11 | g.5254317A>G | CA379264137 | HBG2 | c.290T>C (p.Leu97Pro) c.125T>C (p.Leu42Pro) c.260T>C (p.Leu87Pro) c.*159T>C (n.*159T>C) c.65A>G (p.Gln22Arg) | |
| 11 | g.5254317A>T | CA379264138 | HBG2 | c.290T>A (p.Leu97Gln) c.125T>A (p.Leu42Gln) c.260T>A (p.Leu87Gln) c.*159T>A (n.*159T>A) c.65A>T (p.Gln22Leu) | |
| 11 | g.5254318G>A | CA472633807 | HBG2 | c.289C>T (p.Leu97=) c.124C>T (p.Leu42=) c.259C>T (p.Leu87=) c.*158C>T (n.*158C>T) c.66G>A (p.Gln22=) | |
| 11 | g.5254318G>C | CA379264140 | HBG2 | c.289C>G (p.Leu97Val) c.124C>G (p.Leu42Val) c.259C>G (p.Leu87Val) c.*158C>G (n.*158C>G) c.66G>C (p.Gln22His) | |
| 11 | g.5254318G>T | CA379264139 | HBG2 | c.289C>A (p.Leu97Met) c.124C>A (p.Leu42Met) c.259C>A (p.Leu87Met) c.*158C>A (n.*158C>A) c.66G>T (p.Gln22His) | |
| 11 | g.5254319C>A | CA379264141 | HBG2 | c.288G>T (p.Lys96Asn) c.123G>T (p.Lys41Asn) c.258G>T (p.Lys86Asn) c.*157G>T (n.*157G>T) c.67C>A (p.Leu23Ile) | |
| 11 | g.5254319C= | CA1949577257 | HBG2 | c.288G= (p.Lys96=) c.123G= (p.Lys41=) c.258G= (p.Lys86=) c.*157G= (n.*157G=) c.67C= (p.Leu23=) | |
| 11 | g.5254319C>G | CA379264142 | HBG2 | c.288G>C (p.Lys96Asn) c.123G>C (p.Lys41Asn) c.258G>C (p.Lys86Asn) c.*157G>C (n.*157G>C) c.67C>G (p.Leu23Val) | gnomAD v4 |
| 11 | g.5254319C>T | CA5840254 | HBG2 | c.288G>A (p.Lys96=) c.123G>A (p.Lys41=) c.258G>A (p.Lys86=) c.*157G>A (n.*157G>A) c.67C>T (p.Leu23Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254320T>A | CA379264143 | HBG2 | c.287A>T (p.Lys96Met) c.122A>T (p.Lys41Met) c.257A>T (p.Lys86Met) c.*156A>T (n.*156A>T) c.68T>A (p.Leu23His) | dbSNP |
| 11 | g.5254320T>C | CA379264144 | HBG2 | c.287A>G (p.Lys96Arg) c.122A>G (p.Lys41Arg) c.257A>G (p.Lys86Arg) c.*156A>G (n.*156A>G) c.68T>C (p.Leu23Pro) | gnomAD v4 |
| 11 | g.5254320T>G | CA379264145 | HBG2 | c.287A>C (p.Lys96Thr) c.122A>C (p.Lys41Thr) c.257A>C (p.Lys86Thr) c.*156A>C (n.*156A>C) c.68T>G (p.Leu23Arg) | |
| 11 | g.5254321T>A | CA379264148 | HBG2 | c.286A>T (p.Lys96Ter) c.121A>T (p.Lys41Ter) c.256A>T (p.Lys86Ter) c.*155A>T (n.*155A>T) c.69T>A (p.Leu23=) | |
| 11 | g.5254321T>C | CA379264146 | HBG2 | c.286A>G (p.Lys96Glu) c.121A>G (p.Lys41Glu) c.256A>G (p.Lys86Glu) c.*155A>G (n.*155A>G) c.69T>C (p.Leu23=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254321T>G | CA379264147 | HBG2 | c.286A>C (p.Lys96Gln) c.121A>C (p.Lys41Gln) c.256A>C (p.Lys86Gln) c.*155A>C (n.*155A>C) c.69T>G (p.Leu23=) | |
| 11 | g.5254321T= | CA1949577262 | HBG2 | c.286A= (p.Lys96=) c.121A= (p.Lys41=) c.256A= (p.Lys86=) c.*155A= (n.*155A=) c.69T= (p.Leu23=) | |
| 11 | g.5254322G>A | CA379264149 | HBG2 | c.285C>T (p.Asp95=) c.120C>T (p.Asp40=) c.255C>T (p.Asp85=) c.*154C>T (n.*154C>T) c.70G>A (p.Val24Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254322G>C | CA379264150 | HBG2 | c.285C>G (p.Asp95Glu) c.120C>G (p.Asp40Glu) c.255C>G (p.Asp85Glu) c.*154C>G (n.*154C>G) c.70G>C (p.Val24Leu) | |
| 11 | g.5254322G= | CA1949577266 | HBG2 | c.285C= (p.Asp95=) c.120C= (p.Asp40=) c.255C= (p.Asp85=) c.*154C= (n.*154C=) c.70G= (p.Val24=) | |
| 11 | g.5254322G>T | CA379264151 | HBG2 | c.285C>A (p.Asp95Glu) c.120C>A (p.Asp40Glu) c.255C>A (p.Asp85Glu) c.*154C>A (n.*154C>A) c.70G>T (p.Val24Phe) | |
| 11 | g.5254323T>A | CA379264152 | HBG2 | c.284A>T (p.Asp95Val) c.119A>T (p.Asp40Val) c.254A>T (p.Asp85Val) c.*153A>T (n.*153A>T) c.71T>A (p.Val24Asp) | |
| 11 | g.5254323T>C | CA379264153 | HBG2 | c.284A>G (p.Asp95Gly) c.119A>G (p.Asp40Gly) c.254A>G (p.Asp85Gly) c.*153A>G (n.*153A>G) c.71T>C (p.Val24Ala) | |
| 11 | g.5254323T>G | CA379264154 | HBG2 | c.284A>C (p.Asp95Ala) c.119A>C (p.Asp40Ala) c.254A>C (p.Asp85Ala) c.*153A>C (n.*153A>C) c.71T>G (p.Val24Gly) | |
| 11 | g.5254324C>A | CA379264155 | HBG2 | c.283G>T (p.Asp95Tyr) c.118G>T (p.Asp40Tyr) c.253G>T (p.Asp85Tyr) c.*152G>T (n.*152G>T) c.72C>A (p.Val24=) | |
| 11 | g.5254324C= | CA1949577271 | HBG2 | c.283G= (p.Asp95=) c.118G= (p.Asp40=) c.253G= (p.Asp85=) c.*152G= (n.*152G=) c.72C= (p.Val24=) | |
| 11 | g.5254324C>G | CA379264156 | HBG2 | c.283G>C (p.Asp95His) c.118G>C (p.Asp40His) c.253G>C (p.Asp85His) c.*152G>C (n.*152G>C) c.72C>G (p.Val24=) | |
| 11 | g.5254324C>T | CA124504 | HBG2 | c.283G>A (p.Asp95Asn) c.118G>A (p.Asp40Asn) c.253G>A (p.Asp85Asn) c.*152G>A (n.*152G>A) c.72C>T (p.Val24=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5254325A>C | CA379264157 | HBG2 | c.282T>G (p.Cys94Trp) c.117T>G (p.Cys39Trp) c.252T>G (p.Cys84Trp) c.*151T>G (n.*151T>G) c.73A>C (p.Thr25Pro) | |
| 11 | g.5254325A>G | CA379264158 | HBG2 | c.282T>C (p.Cys94=) c.117T>C (p.Cys39=) c.252T>C (p.Cys84=) c.*151T>C (n.*151T>C) c.73A>G (p.Thr25Ala) | dbSNP |
| 11 | g.5254325A>T | CA379264159 | HBG2 | c.282T>A (p.Cys94Ter) c.117T>A (p.Cys39Ter) c.252T>A (p.Cys84Ter) c.*151T>A (n.*151T>A) c.73A>T (p.Thr25Ser) | |
| 11 | g.5254326C>A | CA379264160 | HBG2 | c.281G>T (p.Cys94Phe) c.116G>T (p.Cys39Phe) c.251G>T (p.Cys84Phe) c.*150G>T (n.*150G>T) c.74C>A (p.Thr25Lys) | |
| 11 | g.5254326C>G | CA379264162 | HBG2 | c.281G>C (p.Cys94Ser) c.116G>C (p.Cys39Ser) c.251G>C (p.Cys84Ser) c.*150G>C (n.*150G>C) c.74C>G (p.Thr25Arg) | gnomAD v4 |