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.5254374T>A | CA217121251 | HBG2 | c.233A>T (p.His78Leu) c.68A>T (p.His23Leu) c.203A>T (p.His68Leu) c.*102A>T (n.*102A>T) c.122T>A (p.Val41Glu) | dbSNP |
| 11 | g.5254374T>C | CA124510 | HBG2 | c.233A>G (p.His78Arg) c.68A>G (p.His23Arg) c.203A>G (p.His68Arg) c.*102A>G (n.*102A>G) c.122T>C (p.Val41Ala) | ClinVar dbSNP |
| 11 | g.5254374T>G | CA379264287 | HBG2 | c.233A>C (p.His78Pro) c.68A>C (p.His23Pro) c.203A>C (p.His68Pro) c.*102A>C (n.*102A>C) c.122T>G (p.Val41Gly) | |
| 11 | g.5254374T= | CA1949577351 | HBG2 | c.233A= (p.His78=) c.68A= (p.His23=) c.203A= (p.His68=) c.*102A= (n.*102A=) c.122T= (p.Val41=) | |
| 11 | g.5254375G>A | CA379264289 | HBG2 | c.232C>T (p.His78Tyr) c.67C>T (p.His23Tyr) c.202C>T (p.His68Tyr) c.*101C>T (n.*101C>T) c.123G>A (p.Val41=) | gnomAD v4 |
| 11 | g.5254375G>C | CA379264288 | HBG2 | c.232C>G (p.His78Asp) c.67C>G (p.His23Asp) c.202C>G (p.His68Asp) c.*101C>G (n.*101C>G) c.123G>C (p.Val41=) | |
| 11 | g.5254375G= | CA1949577357 | HBG2 | c.232C= (p.His78=) c.67C= (p.His23=) c.202C= (p.His68=) c.*101C= (n.*101C=) c.123G= (p.Val41=) | |
| 11 | g.5254375G>T | CA5840263 | HBG2 | c.232C>A (p.His78Asn) c.67C>A (p.His23Asn) c.202C>A (p.His68Asn) c.*101C>A (n.*101C>A) c.123G>T (p.Val41=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254376C>A | CA379264290 | HBG2 | c.231G>T (p.Lys77Asn) c.66G>T (p.Lys22Asn) c.201G>T (p.Lys67Asn) c.*100G>T (n.*100G>T) c.124C>A (p.Leu42Ile) | |
| 11 | g.5254376C>G | CA379264291 | HBG2 | c.231G>C (p.Lys77Asn) c.66G>C (p.Lys22Asn) c.201G>C (p.Lys67Asn) c.*100G>C (n.*100G>C) c.124C>G (p.Leu42Val) | |
| 11 | g.5254376C>T | CA379264292 | HBG2 | c.231G>A (p.Lys77=) c.66G>A (p.Lys22=) c.201G>A (p.Lys67=) c.*100G>A (n.*100G>A) c.124C>T (p.Leu42Phe) | |
| 11 | g.5254377T>A | CA379264293 | HBG2 | c.230A>T (p.Lys77Met) c.65A>T (p.Lys22Met) c.200A>T (p.Lys67Met) c.*99A>T (n.*99A>T) c.125T>A (p.Leu42His) | |
| 11 | g.5254377T>C | CA379264294 | HBG2 | c.230A>G (p.Lys77Arg) c.65A>G (p.Lys22Arg) c.200A>G (p.Lys67Arg) c.*99A>G (n.*99A>G) c.125T>C (p.Leu42Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254377T>G | CA379264295 | HBG2 | c.230A>C (p.Lys77Thr) c.65A>C (p.Lys22Thr) c.200A>C (p.Lys67Thr) c.*99A>C (n.*99A>C) c.125T>G (p.Leu42Arg) | |
| 11 | g.5254377T= | CA1949577360 | HBG2 | c.230A= (p.Lys77=) c.65A= (p.Lys22=) c.200A= (p.Lys67=) c.*99A= (n.*99A=) c.125T= (p.Leu42=) | |
| 11 | g.5254378T>A | CA379264296 | HBG2 | c.229A>T (p.Lys77Ter) c.64A>T (p.Lys22Ter) c.199A>T (p.Lys67Ter) c.*98A>T (n.*98A>T) c.126T>A (p.Leu42=) | |
| 11 | g.5254378T>C | CA379264297 | HBG2 | c.229A>G (p.Lys77Glu) c.64A>G (p.Lys22Glu) c.199A>G (p.Lys67Glu) c.*98A>G (n.*98A>G) c.126T>C (p.Leu42=) | |
| 11 | g.5254378T>G | CA379264298 | HBG2 | c.229A>C (p.Lys77Gln) c.64A>C (p.Lys22Gln) c.199A>C (p.Lys67Gln) c.*98A>C (n.*98A>C) c.126T>G (p.Leu42=) | |
| 11 | g.5254379T>A | CA379264299 | HBG2 | c.228A>T (p.Ile76=) c.63A>T (p.Ile21=) c.198A>T (p.Ile66=) c.*97A>T (n.*97A>T) c.127T>A (p.Tyr43Asn) | |
| 11 | g.5254379T>C | CA379264300 | HBG2 | c.228A>G (p.Ile76Met) c.63A>G (p.Ile21Met) c.198A>G (p.Ile66Met) c.*97A>G (n.*97A>G) c.127T>C (p.Tyr43His) | |
| 11 | g.5254379T>G | CA379264301 | HBG2 | c.228A>C (p.Ile76=) c.63A>C (p.Ile21=) c.198A>C (p.Ile66=) c.*97A>C (n.*97A>C) c.127T>G (p.Tyr43Asp) | |
| 11 | g.5254380A= | CA1949577364 | HBG2 | c.227T= (p.Ile76=) c.62T= (p.Ile21=) c.197T= (p.Ile66=) c.*96T= (n.*96T=) c.128A= (p.Tyr43=) | |
| 11 | g.5254380A>C | CA379264302 | HBG2 | c.227T>G (p.Ile76Arg) c.62T>G (p.Ile21Arg) c.197T>G (p.Ile66Arg) c.*96T>G (n.*96T>G) c.128A>C (p.Tyr43Ser) | |
| 11 | g.5254380A>G | CA124562 | HBG2 | c.227T>C (p.Ile76Thr) c.62T>C (p.Ile21Thr) c.197T>C (p.Ile66Thr) c.*96T>C (n.*96T>C) c.128A>G (p.Tyr43Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254380A>T | CA379264303 | HBG2 | c.227T>A (p.Ile76Lys) c.62T>A (p.Ile21Lys) c.197T>A (p.Ile66Lys) c.*96T>A (n.*96T>A) c.128A>T (p.Tyr43Phe) | |
| 11 | g.5254381T>A | CA379264304 | HBG2 | c.226A>T (p.Ile76Leu) c.61A>T (p.Ile21Leu) c.196A>T (p.Ile66Leu) c.*95A>T (n.*95A>T) c.129T>A (p.Tyr43Ter) | |
| 11 | g.5254381T>C | CA5840264 | HBG2 | c.226A>G (p.Ile76Val) c.61A>G (p.Ile21Val) c.196A>G (p.Ile66Val) c.*95A>G (n.*95A>G) c.129T>C (p.Tyr43=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254381T>G | CA379264305 | HBG2 | c.226A>C (p.Ile76Leu) c.61A>C (p.Ile21Leu) c.196A>C (p.Ile66Leu) c.*95A>C (n.*95A>C) c.129T>G (p.Tyr43Ter) | |
| 11 | g.5254381T= | CA1949577372 | HBG2 | c.226A= (p.Ile76=) c.61A= (p.Ile21=) c.196A= (p.Ile66=) c.*95A= (n.*95A=) c.129T= (p.Tyr43=) | |
| 11 | g.5254382G>A | CA379264306 | HBG2 | c.225C>T (p.Ala75=) c.60C>T (p.Ala20=) c.195C>T (p.Ala65=) c.*94C>T (n.*94C>T) c.130G>A (p.Gly44Ser) | |
| 11 | g.5254382G>C | CA379264308 | HBG2 | c.225C>G (p.Ala75=) c.60C>G (p.Ala20=) c.195C>G (p.Ala65=) c.*94C>G (n.*94C>G) c.130G>C (p.Gly44Arg) | |
| 11 | g.5254382G>T | CA379264307 | HBG2 | c.225C>A (p.Ala75=) c.60C>A (p.Ala20=) c.195C>A (p.Ala65=) c.*94C>A (n.*94C>A) c.130G>T (p.Gly44Cys) | |
| 11 | g.5254383G>A | CA379264309 | HBG2 | c.224C>T (p.Ala75Val) c.59C>T (p.Ala20Val) c.194C>T (p.Ala65Val) c.*93C>T (n.*93C>T) c.131G>A (p.Gly44Asp) | gnomAD v4 COSMIC |
| 11 | g.5254383G>C | CA379264310 | HBG2 | c.224C>G (p.Ala75Gly) c.59C>G (p.Ala20Gly) c.194C>G (p.Ala65Gly) c.*93C>G (n.*93C>G) c.131G>C (p.Gly44Ala) | gnomAD v4 |
| 11 | g.5254383G>T | CA379264311 | HBG2 | c.224C>A (p.Ala75Asp) c.59C>A (p.Ala20Asp) c.194C>A (p.Ala65Asp) c.*93C>A (n.*93C>A) c.131G>T (p.Gly44Val) | gnomAD v4 |
| 11 | g.5254384C>A | CA379264312 | HBG2 | c.223G>T (p.Ala75Ser) c.58G>T (p.Ala20Ser) c.193G>T (p.Ala65Ser) c.*92G>T (n.*92G>T) c.132C>A (p.Gly44=) | |
| 11 | g.5254384C>G | CA379264313 | HBG2 | c.223G>C (p.Ala75Pro) c.58G>C (p.Ala20Pro) c.193G>C (p.Ala65Pro) c.*92G>C (n.*92G>C) c.132C>G (p.Gly44=) | gnomAD v4 |
| 11 | g.5254384C>T | CA379264314 | HBG2 | c.223G>A (p.Ala75Thr) c.58G>A (p.Ala20Thr) c.193G>A (p.Ala65Thr) c.*92G>A (n.*92G>A) c.132C>T (p.Gly44=) | gnomAD v4 |
| 11 | g.5254385A= | CA1949577373 | HBG2 | c.222T= (p.Asp74=) c.57T= (p.Asp19=) c.192T= (p.Asp64=) c.*91T= (n.*91T=) c.133A= (p.Ile45=) | |
| 11 | g.5254385A>C | CA379264315 | HBG2 | c.222T>G (p.Asp74Glu) c.57T>G (p.Asp19Glu) c.192T>G (p.Asp64Glu) c.*91T>G (n.*91T>G) c.133A>C (p.Ile45Leu) | |
| 11 | g.5254385A>G | CA379264316 | HBG2 | c.222T>C (p.Asp74=) c.57T>C (p.Asp19=) c.192T>C (p.Asp64=) c.*91T>C (n.*91T>C) c.133A>G (p.Ile45Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254385A>T | CA379264317 | HBG2 | c.222T>A (p.Asp74Glu) c.57T>A (p.Asp19Glu) c.192T>A (p.Asp64Glu) c.*91T>A (n.*91T>A) c.133A>T (p.Ile45Phe) | |
| 11 | g.5254386T>A | CA379264318 | HBG2 | c.221A>T (p.Asp74Val) c.56A>T (p.Asp19Val) c.191A>T (p.Asp64Val) c.*90A>T (n.*90A>T) c.134T>A (p.Ile45Asn) | |
| 11 | g.5254386T>C | CA379264319 | HBG2 | c.221A>G (p.Asp74Gly) c.56A>G (p.Asp19Gly) c.191A>G (p.Asp64Gly) c.*90A>G (n.*90A>G) c.134T>C (p.Ile45Thr) | |
| 11 | g.5254386T>G | CA379264320 | HBG2 | c.221A>C (p.Asp74Ala) c.56A>C (p.Asp19Ala) c.191A>C (p.Asp64Ala) c.*90A>C (n.*90A>C) c.134T>G (p.Ile45Ser) | |
| 11 | g.5254387C>A | CA379264321 | HBG2 | c.220G>T (p.Asp74Tyr) c.55G>T (p.Asp19Tyr) c.190G>T (p.Asp64Tyr) c.*89G>T (n.*89G>T) c.135C>A (p.Ile45=) | |
| 11 | g.5254387C>G | CA379264323 | HBG2 | c.220G>C (p.Asp74His) c.55G>C (p.Asp19His) c.190G>C (p.Asp64His) c.*89G>C (n.*89G>C) c.135C>G (p.Ile45Met) | gnomAD v4 |
| 11 | g.5254387C>T | CA379264322 | HBG2 | c.220G>A (p.Asp74Asn) c.55G>A (p.Asp19Asn) c.190G>A (p.Asp64Asn) c.*89G>A (n.*89G>A) c.135C>T (p.Ile45=) | COSMIC |
| 11 | g.5254388T>A | CA379264324 | HBG2 | c.219A>T (p.Gly73=) c.54A>T (p.Gly18=) c.189A>T (p.Gly63=) c.*88A>T (n.*88A>T) c.136T>A (p.Ser46Thr) | |
| 11 | g.5254388T>C | CA379264325 | HBG2 | c.219A>G (p.Gly73=) c.54A>G (p.Gly18=) c.189A>G (p.Gly63=) c.*88A>G (n.*88A>G) c.136T>C (p.Ser46Pro) |