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.5254389C>A | CA379264327 | HBG2 | c.218G>T (p.Gly73Val) c.53G>T (p.Gly18Val) c.188G>T (p.Gly63Val) c.*87G>T (n.*87G>T) c.137C>A (p.Ser46Tyr) | |
| 11 | g.5254389C= | CA1949577378 | HBG2 | c.218G= (p.Gly73=) c.53G= (p.Gly18=) c.188G= (p.Gly63=) c.*87G= (n.*87G=) c.137C= (p.Ser46=) | |
| 11 | g.5254389C>G | CA379264328 | HBG2 | c.218G>C (p.Gly73Ala) c.53G>C (p.Gly18Ala) c.188G>C (p.Gly63Ala) c.*87G>C (n.*87G>C) c.137C>G (p.Ser46Cys) | |
| 11 | g.5254389C>T | CA379264329 | HBG2 | c.218G>A (p.Gly73Glu) c.53G>A (p.Gly18Glu) c.188G>A (p.Gly63Glu) c.*87G>A (n.*87G>A) c.137C>T (p.Ser46Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.5254390C>A | CA379264330 | HBG2 | c.217G>T (p.Gly73Ter) c.52G>T (p.Gly18Ter) c.187G>T (p.Gly63Ter) c.*86G>T (n.*86G>T) c.138C>A (p.Ser46=) | |
| 11 | g.5254390C= | CA1949577384 | HBG2 | c.217G= (p.Gly73=) c.52G= (p.Gly18=) c.187G= (p.Gly63=) c.*86G= (n.*86G=) c.138C= (p.Ser46=) | |
| 11 | g.5254390C>G | CA124528 | HBG2 | c.217G>C (p.Gly73Arg) c.52G>C (p.Gly18Arg) c.187G>C (p.Gly63Arg) c.*86G>C (n.*86G>C) c.138C>G (p.Ser46=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5254390C>T | CA379264331 | HBG2 | c.217G>A (p.Gly73Arg) c.52G>A (p.Gly18Arg) c.187G>A (p.Gly63Arg) c.*86G>A (n.*86G>A) c.138C>T (p.Ser46=) | |
| 11 | g.5254391C>A | CA379264334 | HBG2 | c.216G>T (p.Leu72Phe) c.51G>T (p.Leu17Phe) c.186G>T (p.Leu62Phe) c.*85G>T (n.*85G>T) c.139C>A (p.Gln47Lys) | |
| 11 | g.5254391C>G | CA379264333 | HBG2 | c.216G>C (p.Leu72Phe) c.51G>C (p.Leu17Phe) c.186G>C (p.Leu62Phe) c.*85G>C (n.*85G>C) c.139C>G (p.Gln47Glu) | gnomAD v4 |
| 11 | g.5254391C>T | CA379264332 | HBG2 | c.216G>A (p.Leu72=) c.51G>A (p.Leu17=) c.186G>A (p.Leu62=) c.*85G>A (n.*85G>A) c.139C>T (p.Gln47Ter) | |
| 11 | g.5254392A= | CA1949577390 | HBG2 | c.215T= (p.Leu72=) c.50T= (p.Leu17=) c.1761T= (n.1761T=) c.185T= (p.Leu62=) c.*84T= (n.*84T=) c.140A= (p.Gln47=) | |
| 11 | g.5254392A>C | CA379264335 | HBG2 | c.215T>G (p.Leu72Trp) c.50T>G (p.Leu17Trp) c.1761T>G (n.1761T>G) c.185T>G (p.Leu62Trp) c.*84T>G (n.*84T>G) c.140A>C (p.Gln47Pro) | |
| 11 | g.5254392A>G | CA379264336 | HBG2 | c.215T>C (p.Leu72Ser) c.50T>C (p.Leu17Ser) c.1761T>C (n.1761T>C) c.185T>C (p.Leu62Ser) c.*84T>C (n.*84T>C) c.140A>G (p.Gln47Arg) | dbSNP gnomAD v4 |
| 11 | g.5254392A>T | CA379264337 | HBG2 | c.215T>A (p.Leu72Ter) c.50T>A (p.Leu17Ter) c.1761T>A (n.1761T>A) c.185T>A (p.Leu62Ter) c.*84T>A (n.*84T>A) c.140A>T (p.Gln47Leu) | |
| 11 | g.5254393A>C | CA379264338 | HBG2 | c.214T>G (p.Leu72Val) c.49T>G (p.Leu17Val) c.1760T>G (n.1760T>G) c.184T>G (p.Leu62Val) c.*83T>G (n.*83T>G) c.141A>C (p.Gln47His) | |
| 11 | g.5254393A>G | CA472886077 | HBG2 | c.214T>C (p.Leu72=) c.49T>C (p.Leu17=) c.1760T>C (n.1760T>C) c.184T>C (p.Leu62=) c.*83T>C (n.*83T>C) c.141A>G (p.Gln47=) | |
| 11 | g.5254393A>T | CA379264339 | HBG2 | c.214T>A (p.Leu72Met) c.49T>A (p.Leu17Met) c.1760T>A (n.1760T>A) c.184T>A (p.Leu62Met) c.*83T>A (n.*83T>A) c.141A>T (p.Gln47His) | |
| 11 | g.5254394G>A | CA379264340 | HBG2 | c.213C>T (p.Ser71=) c.48C>T (p.Ser16=) c.1759C>T (n.1759C>T) c.183C>T (p.Ser61=) c.*82C>T (n.*82C>T) c.142G>A (p.Gly48Arg) | |
| 11 | g.5254394G>C | CA379264341 | HBG2 | c.213C>G (p.Ser71=) c.48C>G (p.Ser16=) c.1759C>G (n.1759C>G) c.183C>G (p.Ser61=) c.*82C>G (n.*82C>G) c.142G>C (p.Gly48Arg) | |
| 11 | g.5254394G>T | CA379264342 | HBG2 | c.213C>A (p.Ser71=) c.48C>A (p.Ser16=) c.1759C>A (n.1759C>A) c.183C>A (p.Ser61=) c.*82C>A (n.*82C>A) c.142G>T (p.Gly48Ter) | |
| 11 | g.5254395G>A | CA217121271 | HBG2 | c.212C>T (p.Ser71Phe) c.47C>T (p.Ser16Phe) c.1758C>T (n.1758C>T) c.182C>T (p.Ser61Phe) c.*81C>T (n.*81C>T) c.143G>A (p.Gly48Glu) | dbSNP gnomAD v4 COSMIC |
| 11 | g.5254395G>C | CA379264343 | HBG2 | c.212C>G (p.Ser71Cys) c.47C>G (p.Ser16Cys) c.1758C>G (n.1758C>G) c.182C>G (p.Ser61Cys) c.*81C>G (n.*81C>G) c.143G>C (p.Gly48Ala) | |
| 11 | g.5254395G= | CA1949577392 | HBG2 | c.212C= (p.Ser71=) c.47C= (p.Ser16=) c.1758C= (n.1758C=) c.182C= (p.Ser61=) c.*81C= (n.*81C=) c.143G= (p.Gly48=) | |
| 11 | g.5254395G>T | CA379264344 | HBG2 | c.212C>A (p.Ser71Tyr) c.47C>A (p.Ser16Tyr) c.1758C>A (n.1758C>A) c.182C>A (p.Ser61Tyr) c.*81C>A (n.*81C>A) c.143G>T (p.Gly48Val) | gnomAD v4 |
| 11 | g.5254396A>C | CA379264347 | HBG2 | c.211T>G (p.Ser71Ala) c.46T>G (p.Ser16Ala) c.1757T>G (n.1757T>G) c.181T>G (p.Ser61Ala) c.*80T>G (n.*80T>G) c.144A>C (p.Gly48=) | |
| 11 | g.5254396A>G | CA379264346 | HBG2 | c.211T>C (p.Ser71Pro) c.46T>C (p.Ser16Pro) c.1757T>C (n.1757T>C) c.181T>C (p.Ser61Pro) c.*80T>C (n.*80T>C) c.144A>G (p.Gly48=) | |
| 11 | g.5254396A>T | CA379264345 | HBG2 | c.211T>A (p.Ser71Thr) c.46T>A (p.Ser16Thr) c.1757T>A (n.1757T>A) c.181T>A (p.Ser61Thr) c.*80T>A (n.*80T>A) c.144A>T (p.Gly48=) | |
| 11 | g.5254397A= | CA1949577397 | HBG2 | c.210T= (p.Thr70=) c.45T= (p.Thr15=) c.1756T= (n.1756T=) c.180T= (p.Thr60=) c.*79T= (n.*79T=) c.145A= (p.Ser49=) | |
| 11 | g.5254397A>C | CA5840265 | HBG2 | c.210T>G (p.Thr70=) c.45T>G (p.Thr15=) c.1756T>G (n.1756T>G) c.180T>G (p.Thr60=) c.*79T>G (n.*79T>G) c.145A>C (p.Ser49Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.5254397A>G | CA379264348 | HBG2 | c.210T>C (p.Thr70=) c.45T>C (p.Thr15=) c.1756T>C (n.1756T>C) c.180T>C (p.Thr60=) c.*79T>C (n.*79T>C) c.145A>G (p.Ser49Gly) | |
| 11 | g.5254397A>T | CA379264349 | HBG2 | c.210T>A (p.Thr70=) c.45T>A (p.Thr15=) c.1756T>A (n.1756T>A) c.180T>A (p.Thr60=) c.*79T>A (n.*79T>A) c.145A>T (p.Ser49Cys) | dbSNP COSMIC |
| 11 | g.5254398G>A | CA379264350 | HBG2 | c.209C>T (p.Thr70Ile) c.44C>T (p.Thr15Ile) c.1755C>T (n.1755C>T) c.179C>T (p.Thr60Ile) c.*78C>T (n.*78C>T) c.146G>A (p.Ser49Asn) | gnomAD v4 |
| 11 | g.5254398G>C | CA379264351 | HBG2 | c.209C>G (p.Thr70Ser) c.44C>G (p.Thr15Ser) c.1755C>G (n.1755C>G) c.179C>G (p.Thr60Ser) c.*78C>G (n.*78C>G) c.146G>C (p.Ser49Thr) | dbSNP gnomAD v4 |
| 11 | g.5254398G= | CA1949577402 | HBG2 | c.209C= (p.Thr70=) c.44C= (p.Thr15=) c.1755C= (n.1755C=) c.179C= (p.Thr60=) c.*78C= (n.*78C=) c.146G= (p.Ser49=) | |
| 11 | g.5254398G>T | CA5840266 | HBG2 | c.209C>A (p.Thr70Asn) c.44C>A (p.Thr15Asn) c.1755C>A (n.1755C>A) c.179C>A (p.Thr60Asn) c.*78C>A (n.*78C>A) c.146G>T (p.Ser49Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5254399T>A | CA379264352 | HBG2 | c.208A>T (p.Thr70Ser) c.43A>T (p.Thr15Ser) c.1754A>T (n.1754A>T) c.178A>T (p.Thr60Ser) c.*77A>T (n.*77A>T) c.147T>A (p.Ser49Arg) | |
| 11 | g.5254399T>C | CA379264353 | HBG2 | c.208A>G (p.Thr70Ala) c.43A>G (p.Thr15Ala) c.1754A>G (n.1754A>G) c.178A>G (p.Thr60Ala) c.*77A>G (n.*77A>G) c.147T>C (p.Ser49=) | gnomAD v4 |
| 11 | g.5254399T>G | CA379264354 | HBG2 | c.208A>C (p.Thr70Pro) c.43A>C (p.Thr15Pro) c.1754A>C (n.1754A>C) c.178A>C (p.Thr60Pro) c.*77A>C (n.*77A>C) c.147T>G (p.Ser49Arg) | gnomAD v4 |
| 11 | g.5254401_5254409del | CA2612152326 | HBG2 | c.200_208del (p.Lys67_Leu69del) c.35_43del (p.Lys12_Leu14del) c.1746_1754del (n.1746_1754del) c.170_178del (p.Lys57_Leu59del) c.*69_*77del (n.*69_*77del) c.149_157del (p.Gln50_Leu52del) | gnomAD v4 |
| 11 | g.5254400C>A | CA379264355 | HBG2 | c.207G>T (p.Leu69=) c.42G>T (p.Leu14=) c.1753G>T (n.1753G>T) c.177G>T (p.Leu59=) c.*76G>T (n.*76G>T) c.148C>A (p.Gln50Lys) | |
| 11 | g.5254400C= | CA1949577407 | HBG2 | c.207G= (p.Leu69=) c.42G= (p.Leu14=) c.1753G= (n.1753G=) c.177G= (p.Leu59=) c.*76G= (n.*76G=) c.148C= (p.Gln50=) | |
| 11 | g.5254400C>G | CA379264356 | HBG2 | c.207G>C (p.Leu69=) c.42G>C (p.Leu14=) c.1753G>C (n.1753G>C) c.177G>C (p.Leu59=) c.*76G>C (n.*76G>C) c.148C>G (p.Gln50Glu) | |
| 11 | g.5254400C>T | CA379264357 | HBG2 | c.207G>A (p.Leu69=) c.42G>A (p.Leu14=) c.1753G>A (n.1753G>A) c.177G>A (p.Leu59=) c.*76G>A (n.*76G>A) c.148C>T (p.Gln50Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254401A>C | CA379264360 | HBG2 | c.206T>G (p.Leu69Arg) c.41T>G (p.Leu14Arg) c.1752T>G (n.1752T>G) c.176T>G (p.Leu59Arg) c.*75T>G (n.*75T>G) c.149A>C (p.Gln50Pro) | |
| 11 | g.5254401A>G | CA379264359 | HBG2 | c.206T>C (p.Leu69Pro) c.41T>C (p.Leu14Pro) c.1752T>C (n.1752T>C) c.176T>C (p.Leu59Pro) c.*75T>C (n.*75T>C) c.149A>G (p.Gln50Arg) | |
| 11 | g.5254401A>T | CA379264358 | HBG2 | c.206T>A (p.Leu69Gln) c.41T>A (p.Leu14Gln) c.1752T>A (n.1752T>A) c.176T>A (p.Leu59Gln) c.*75T>A (n.*75T>A) c.149A>T (p.Gln50Leu) | gnomAD v4 |
| 11 | g.5254402G>A | CA472886078 | HBG2 | c.205C>T (p.Leu69=) c.40C>T (p.Leu14=) c.1751C>T (n.1751C>T) c.175C>T (p.Leu59=) c.*74C>T (n.*74C>T) c.150G>A (p.Gln50=) | dbSNP gnomAD v4 |
| 11 | g.5254402G>C | CA379264361 | HBG2 | c.205C>G (p.Leu69Val) c.40C>G (p.Leu14Val) c.1751C>G (n.1751C>G) c.175C>G (p.Leu59Val) c.*74C>G (n.*74C>G) c.150G>C (p.Gln50His) | |
| 11 | g.5254402G= | CA1949577409 | HBG2 | c.205C= (p.Leu69=) c.40C= (p.Leu14=) c.1751C= (n.1751C=) c.175C= (p.Leu59=) c.*74C= (n.*74C=) c.150G= (p.Gln50=) |