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.5254298G>A | CA379264085 | HBG2 | c.309C>T (p.Asn103=) c.144C>T (p.Asn48=) c.279C>T (p.Asn93=) c.*178C>T (n.*178C>T) c.46G>A (p.Val16Ile) | |
| 11 | g.5254298G>C | CA379264086 | HBG2 | c.309C>G (p.Asn103Lys) c.144C>G (p.Asn48Lys) c.279C>G (p.Asn93Lys) c.*178C>G (n.*178C>G) c.46G>C (p.Val16Leu) | |
| 11 | g.5254298G>T | CA379264087 | HBG2 | c.309C>A (p.Asn103Lys) c.144C>A (p.Asn48Lys) c.279C>A (p.Asn93Lys) c.*178C>A (n.*178C>A) c.46G>T (p.Val16Phe) | |
| 11 | g.5254299T>A | CA379264089 | HBG2 | c.308A>T (p.Asn103Ile) c.143A>T (p.Asn48Ile) c.278A>T (p.Asn93Ile) c.*177A>T (n.*177A>T) c.47T>A (p.Val16Asp) | |
| 11 | g.5254299T>C | CA379264088 | HBG2 | c.308A>G (p.Asn103Ser) c.143A>G (p.Asn48Ser) c.278A>G (p.Asn93Ser) c.*177A>G (n.*177A>G) c.47T>C (p.Val16Ala) | |
| 11 | g.5254299T>G | CA217121189 | HBG2 | c.308A>C (p.Asn103Thr) c.143A>C (p.Asn48Thr) c.278A>C (p.Asn93Thr) c.*177A>C (n.*177A>C) c.47T>G (p.Val16Gly) | dbSNP |
| 11 | g.5254299T= | CA1949577218 | HBG2 | c.308A= (p.Asn103=) c.143A= (p.Asn48=) c.278A= (p.Asn93=) c.*177A= (n.*177A=) c.47T= (p.Val16=) | |
| 11 | g.5254300T>A | CA379264090 | HBG2 | c.307A>T (p.Asn103Tyr) c.142A>T (p.Asn48Tyr) c.277A>T (p.Asn93Tyr) c.*176A>T (n.*176A>T) c.48T>A (p.Val16=) | |
| 11 | g.5254300T>C | CA379264091 | HBG2 | c.307A>G (p.Asn103Asp) c.142A>G (p.Asn48Asp) c.277A>G (p.Asn93Asp) c.*176A>G (n.*176A>G) c.48T>C (p.Val16=) | |
| 11 | g.5254300T>G | CA379264092 | HBG2 | c.307A>C (p.Asn103His) c.142A>C (p.Asn48His) c.277A>C (p.Asn93His) c.*176A>C (n.*176A>C) c.48T>G (p.Val16=) | |
| 11 | g.5254301C>A | CA379264093 | HBG2 | c.306G>T (p.Glu102Asp) c.141G>T (p.Glu47Asp) c.276G>T (p.Glu92Asp) c.*175G>T (n.*175G>T) c.49C>A (p.Leu17Ile) | COSMIC |
| 11 | g.5254301C>G | CA379264094 | HBG2 | c.306G>C (p.Glu102Asp) c.141G>C (p.Glu47Asp) c.276G>C (p.Glu92Asp) c.*175G>C (n.*175G>C) c.49C>G (p.Leu17Val) | |
| 11 | g.5254301C>T | CA379264095 | HBG2 | c.306G>A (p.Glu102=) c.141G>A (p.Glu47=) c.276G>A (p.Glu92=) c.*175G>A (n.*175G>A) c.49C>T (p.Leu17Phe) | |
| 11 | g.5254302T>A | CA379264096 | HBG2 | c.305A>T (p.Glu102Val) c.140A>T (p.Glu47Val) c.275A>T (p.Glu92Val) c.*174A>T (n.*174A>T) c.50T>A (p.Leu17His) | |
| 11 | g.5254302T>C | CA379264097 | HBG2 | c.305A>G (p.Glu102Gly) c.140A>G (p.Glu47Gly) c.275A>G (p.Glu92Gly) c.*174A>G (n.*174A>G) c.50T>C (p.Leu17Pro) | |
| 11 | g.5254302T>G | CA379264098 | HBG2 | c.305A>C (p.Glu102Ala) c.140A>C (p.Glu47Ala) c.275A>C (p.Glu92Ala) c.*174A>C (n.*174A>C) c.50T>G (p.Leu17Arg) | |
| 11 | g.5254303C>A | CA379264099 | HBG2 | c.304G>T (p.Glu102Ter) c.139G>T (p.Glu47Ter) c.274G>T (p.Glu92Ter) c.*173G>T (n.*173G>T) c.51C>A (p.Leu17=) | |
| 11 | g.5254303C= | CA1949577225 | HBG2 | c.304G= (p.Glu102=) c.139G= (p.Glu47=) c.274G= (p.Glu92=) c.*173G= (n.*173G=) c.51C= (p.Leu17=) | |
| 11 | g.5254303C>G | CA217121196 | HBG2 | c.304G>C (p.Glu102Gln) c.139G>C (p.Glu47Gln) c.274G>C (p.Glu92Gln) c.*173G>C (n.*173G>C) c.51C>G (p.Leu17=) | dbSNP gnomAD v4 |
| 11 | g.5254303C>T | CA124514 | HBG2 | c.304G>A (p.Glu102Lys) c.139G>A (p.Glu47Lys) c.274G>A (p.Glu92Lys) c.*173G>A (n.*173G>A) c.51C>T (p.Leu17=) | ClinVar dbSNP |
| 11 | g.5254304A= | CA1949577231 | HBG2 | c.303T= (p.Pro101=) c.138T= (p.Pro46=) c.273T= (p.Pro91=) c.*172T= (n.*172T=) c.52A= (p.Arg18=) | |
| 11 | g.5254304A>C | CA472633754 | HBG2 | c.303T>G (p.Pro101=) c.138T>G (p.Pro46=) c.273T>G (p.Pro91=) c.*172T>G (n.*172T>G) c.52A>C (p.Arg18=) | |
| 11 | g.5254304A>G | CA379264101 | HBG2 | c.303T>C (p.Pro101=) c.138T>C (p.Pro46=) c.273T>C (p.Pro91=) c.*172T>C (n.*172T>C) c.52A>G (p.Arg18Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254304A>T | CA379264100 | HBG2 | c.303T>A (p.Pro101=) c.138T>A (p.Pro46=) c.273T>A (p.Pro91=) c.*172T>A (n.*172T>A) c.52A>T (p.Arg18Trp) | |
| 11 | g.5254305G>A | CA379264102 | HBG2 | c.302C>T (p.Pro101Leu) c.137C>T (p.Pro46Leu) c.272C>T (p.Pro91Leu) c.*171C>T (n.*171C>T) c.53G>A (p.Arg18Lys) | COSMIC |
| 11 | g.5254305G>C | CA379264103 | HBG2 | c.302C>G (p.Pro101Arg) c.137C>G (p.Pro46Arg) c.272C>G (p.Pro91Arg) c.*171C>G (n.*171C>G) c.53G>C (p.Arg18Thr) | |
| 11 | g.5254305G>T | CA379264104 | HBG2 | c.302C>A (p.Pro101His) c.137C>A (p.Pro46His) c.272C>A (p.Pro91His) c.*171C>A (n.*171C>A) c.53G>T (p.Arg18Met) | |
| 11 | g.5254306del | CA2612152145 | HBG2 | c.302del (p.Pro101LeufsTer12) c.137del (p.Pro46LeufsTer12) c.272del (p.Pro91LeufsTer12) c.*171del (n.*171del) c.54del (p.Ile19SerfsTer?) | gnomAD v4 |
| 11 | g.5254306G>A | CA379264105 | HBG2 | c.301C>T (p.Pro101Ser) c.136C>T (p.Pro46Ser) c.271C>T (p.Pro91Ser) c.*170C>T (n.*170C>T) c.54G>A (p.Arg18=) | dbSNP gnomAD v4 COSMIC |
| 11 | g.5254306G>C | CA379264106 | HBG2 | c.301C>G (p.Pro101Ala) c.136C>G (p.Pro46Ala) c.271C>G (p.Pro91Ala) c.*170C>G (n.*170C>G) c.54G>C (p.Arg18Ser) | COSMIC |
| 11 | g.5254306G= | CA1949577237 | HBG2 | c.301C= (p.Pro101=) c.136C= (p.Pro46=) c.271C= (p.Pro91=) c.*170C= (n.*170C=) c.54G= (p.Arg18=) | |
| 11 | g.5254306G>T | CA379264107 | HBG2 | c.301C>A (p.Pro101Thr) c.136C>A (p.Pro46Thr) c.271C>A (p.Pro91Thr) c.*170C>A (n.*170C>A) c.54G>T (p.Arg18Ser) | |
| 11 | g.5254307A>C | CA379264110 | HBG2 | c.300T>G (p.Asp100Glu) c.135T>G (p.Asp45Glu) c.270T>G (p.Asp90Glu) c.*169T>G (n.*169T>G) c.55A>C (p.Ile19Leu) | |
| 11 | g.5254307A>G | CA379264109 | HBG2 | c.300T>C (p.Asp100=) c.135T>C (p.Asp45=) c.270T>C (p.Asp90=) c.*169T>C (n.*169T>C) c.55A>G (p.Ile19Val) | |
| 11 | g.5254307A>T | CA379264108 | HBG2 | c.300T>A (p.Asp100Glu) c.135T>A (p.Asp45Glu) c.270T>A (p.Asp90Glu) c.*169T>A (n.*169T>A) c.55A>T (p.Ile19Phe) | |
| 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) |