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.5254308T>A | CA379264111 | HBG2 | c.299A>T (p.Asp100Val) c.134A>T (p.Asp45Val) c.269A>T (p.Asp90Val) c.*168A>T (n.*168A>T) c.56T>A (p.Ile19Asn) | |
| 11 | g.5254308T>C | CA379264112 | HBG2 | c.299A>G (p.Asp100Gly) c.134A>G (p.Asp45Gly) c.269A>G (p.Asp90Gly) c.*168A>G (n.*168A>G) c.56T>C (p.Ile19Thr) | gnomAD v4 |
| 11 | g.5254308T>G | CA379264113 | HBG2 | c.299A>C (p.Asp100Ala) c.134A>C (p.Asp45Ala) c.269A>C (p.Asp90Ala) c.*168A>C (n.*168A>C) c.56T>G (p.Ile19Ser) | |
| 11 | g.5254309C>A | CA379264114 | HBG2 | c.298G>T (p.Asp100Tyr) c.133G>T (p.Asp45Tyr) c.268G>T (p.Asp90Tyr) c.*167G>T (n.*167G>T) c.57C>A (p.Ile19=) | COSMIC |
| 11 | g.5254309C>G | CA379264115 | HBG2 | c.298G>C (p.Asp100His) c.133G>C (p.Asp45His) c.268G>C (p.Asp90His) c.*167G>C (n.*167G>C) c.57C>G (p.Ile19Met) | |
| 11 | g.5254309C>T | CA379264116 | HBG2 | c.298G>A (p.Asp100Asn) c.133G>A (p.Asp45Asn) c.268G>A (p.Asp90Asn) c.*167G>A (n.*167G>A) c.57C>T (p.Ile19=) | COSMIC |
| 11 | g.5254310C>A | CA379264117 | HBG2 | c.297G>T (p.Val99=) c.132G>T (p.Val44=) c.267G>T (p.Val89=) c.*166G>T (n.*166G>T) c.58C>A (p.His20Asn) | |
| 11 | g.5254310C= | CA1949577241 | HBG2 | c.297G= (p.Val99=) c.132G= (p.Val44=) c.267G= (p.Val89=) c.*166G= (n.*166G=) c.58C= (p.His20=) | |
| 11 | g.5254310C>G | CA379264119 | HBG2 | c.297G>C (p.Val99=) c.132G>C (p.Val44=) c.267G>C (p.Val89=) c.*166G>C (n.*166G>C) c.58C>G (p.His20Asp) | |
| 11 | g.5254310C>T | CA379264118 | HBG2 | c.297G>A (p.Val99=) c.132G>A (p.Val44=) c.267G>A (p.Val89=) c.*166G>A (n.*166G>A) c.58C>T (p.His20Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254311A>C | CA379264120 | HBG2 | c.296T>G (p.Val99Gly) c.131T>G (p.Val44Gly) c.266T>G (p.Val89Gly) c.*165T>G (n.*165T>G) c.59A>C (p.His20Pro) | gnomAD v4 |
| 11 | g.5254311A>G | CA379264121 | HBG2 | c.296T>C (p.Val99Ala) c.131T>C (p.Val44Ala) c.266T>C (p.Val89Ala) c.*165T>C (n.*165T>C) c.59A>G (p.His20Arg) | |
| 11 | g.5254311A>T | CA379264122 | HBG2 | c.296T>A (p.Val99Glu) c.131T>A (p.Val44Glu) c.266T>A (p.Val89Glu) c.*165T>A (n.*165T>A) c.59A>T (p.His20Leu) | |
| 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=) |