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.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.5254409C>A | CA217121305 | HBG2 | c.198G>T (p.Lys66Asn) c.33G>T (p.Lys11Asn) c.1744G>T (n.1744G>T) c.168G>T (p.Lys56Asn) c.*67G>T (n.*67G>T) c.157C>A (p.Leu53Ile) | dbSNP |
| 11 | g.5254409C= | CA1949577448 | HBG2 | c.198G= (p.Lys66=) c.33G= (p.Lys11=) c.1744G= (n.1744G=) c.168G= (p.Lys56=) c.*67G= (n.*67G=) c.157C= (p.Leu53=) | |
| 11 | g.5254409C>G | CA124502 | HBG2 | c.198G>C (p.Lys66Asn) c.33G>C (p.Lys11Asn) c.1744G>C (n.1744G>C) c.168G>C (p.Lys56Asn) c.*67G>C (n.*67G>C) c.157C>G (p.Leu53Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5254409C>T | CA379264377 | HBG2 | c.198G>A (p.Lys66=) c.33G>A (p.Lys11=) c.1744G>A (n.1744G>A) c.168G>A (p.Lys56=) c.*67G>A (n.*67G>A) c.157C>T (p.Leu53Phe) | gnomAD v4 |
| 11 | g.5254410T>A | CA379264378 | HBG2 | c.197A>T (p.Lys66Met) c.32A>T (p.Lys11Met) c.1743A>T (n.1743A>T) c.167A>T (p.Lys56Met) c.*66A>T (n.*66A>T) c.158T>A (p.Leu53His) | |
| 11 | g.5254410T>C | CA379264379 | HBG2 | c.197A>G (p.Lys66Arg) c.32A>G (p.Lys11Arg) c.1743A>G (n.1743A>G) c.167A>G (p.Lys56Arg) c.*66A>G (n.*66A>G) c.158T>C (p.Leu53Pro) | |
| 11 | g.5254410T>G | CA379264380 | HBG2 | c.197A>C (p.Lys66Thr) c.32A>C (p.Lys11Thr) c.1743A>C (n.1743A>C) c.167A>C (p.Lys56Thr) c.*66A>C (n.*66A>C) c.158T>G (p.Leu53Arg) | |
| 11 | g.5254411T>A | CA379264381 | HBG2 | c.196A>T (p.Lys66Ter) c.31A>T (p.Lys11Ter) c.1742A>T (n.1742A>T) c.166A>T (p.Lys56Ter) c.*65A>T (n.*65A>T) c.159T>A (p.Leu53=) | |
| 11 | g.5254411T>C | CA379264382 | HBG2 | c.196A>G (p.Lys66Glu) c.31A>G (p.Lys11Glu) c.1742A>G (n.1742A>G) c.166A>G (p.Lys56Glu) c.*65A>G (n.*65A>G) c.159T>C (p.Leu53=) | |
| 11 | g.5254411T>G | CA379264383 | HBG2 | c.196A>C (p.Lys66Gln) c.31A>C (p.Lys11Gln) c.1742A>C (n.1742A>C) c.166A>C (p.Lys56Gln) c.*65A>C (n.*65A>C) c.159T>G (p.Leu53=) | |
| 11 | g.5254412G>A | CA379264384 | HBG2 | c.195C>T (p.Gly65=) c.30C>T (p.Gly10=) c.1741C>T (n.1741C>T) c.165C>T (p.Gly55=) c.*64C>T (n.*64C>T) c.160G>A (p.Ala54Thr) | |
| 11 | g.5254412G>C | CA379264386 | HBG2 | c.195C>G (p.Gly65=) c.30C>G (p.Gly10=) c.1741C>G (n.1741C>G) c.165C>G (p.Gly55=) c.*64C>G (n.*64C>G) c.160G>C (p.Ala54Pro) | |
| 11 | g.5254412G>T | CA379264385 | HBG2 | c.195C>A (p.Gly65=) c.30C>A (p.Gly10=) c.1741C>A (n.1741C>A) c.165C>A (p.Gly55=) c.*64C>A (n.*64C>A) c.160G>T (p.Ala54Ser) | |
| 11 | g.5254413C>A | CA379264387 | HBG2 | c.194G>T (p.Gly65Val) c.29G>T (p.Gly10Val) c.1740G>T (n.1740G>T) c.164G>T (p.Gly55Val) c.*63G>T (n.*63G>T) c.161C>A (p.Ala54Asp) | |
| 11 | g.5254413C= | CA1949577451 | HBG2 | c.194G= (p.Gly65=) c.29G= (p.Gly10=) c.1740G= (n.1740G=) c.164G= (p.Gly55=) c.*63G= (n.*63G=) c.161C= (p.Ala54=) | |
| 11 | g.5254413C>G | CA379264388 | HBG2 | c.194G>C (p.Gly65Ala) c.29G>C (p.Gly10Ala) c.1740G>C (n.1740G>C) c.164G>C (p.Gly55Ala) c.*63G>C (n.*63G>C) c.161C>G (p.Ala54Gly) | |
| 11 | g.5254413C>T | CA379264389 | HBG2 | c.194G>A (p.Gly65Asp) c.29G>A (p.Gly10Asp) c.1740G>A (n.1740G>A) c.164G>A (p.Gly55Asp) c.*63G>A (n.*63G>A) c.161C>T (p.Ala54Val) | dbSNP |
| 11 | g.5254414C>A | CA379264390 | HBG2 | c.193G>T (p.Gly65Cys) c.28G>T (p.Gly10Cys) c.1739G>T (n.1739G>T) c.163G>T (p.Gly55Cys) c.*62G>T (n.*62G>T) c.162C>A (p.Ala54=) | |
| 11 | g.5254414C>G | CA379264391 | HBG2 | c.193G>C (p.Gly65Arg) c.28G>C (p.Gly10Arg) c.1739G>C (n.1739G>C) c.163G>C (p.Gly55Arg) c.*62G>C (n.*62G>C) c.162C>G (p.Ala54=) | |
| 11 | g.5254414C>T | CA379264392 | HBG2 | c.193G>A (p.Gly65Ser) c.28G>A (p.Gly10Ser) c.1739G>A (n.1739G>A) c.163G>A (p.Gly55Ser) c.*62G>A (n.*62G>A) c.162C>T (p.Ala54=) | gnomAD v4 |
| 11 | g.5254415del | CA2612152358 | HBG2 | c.192del (p.His64GlnfsTer6) c.27del (p.His9GlnfsTer6) c.1738del (n.1738del) c.162del (p.His54GlnfsTer6) c.*61del (n.*61del) c.163del (p.Met55CysfsTer29) | gnomAD v4 |
| 11 | g.5254415A>C | CA379264393 | HBG2 | c.192T>G (p.His64Gln) c.27T>G (p.His9Gln) c.1738T>G (n.1738T>G) c.162T>G (p.His54Gln) c.*61T>G (n.*61T>G) c.163A>C (p.Met55Leu) | |
| 11 | g.5254415A>G | CA379264394 | HBG2 | c.192T>C (p.His64=) c.27T>C (p.His9=) c.1738T>C (n.1738T>C) c.162T>C (p.His54=) c.*61T>C (n.*61T>C) c.163A>G (p.Met55Val) | |
| 11 | g.5254415A>T | CA379264395 | HBG2 | c.192T>A (p.His64Gln) c.27T>A (p.His9Gln) c.1738T>A (n.1738T>A) c.162T>A (p.His54Gln) c.*61T>A (n.*61T>A) c.163A>T (p.Met55Leu) | |
| 11 | g.5254416T>A | CA379264396 | HBG2 | c.191A>T (p.His64Leu) c.26A>T (p.His9Leu) c.1737A>T (n.1737A>T) c.161A>T (p.His54Leu) c.*60A>T (n.*60A>T) c.164T>A (p.Met55Lys) | ClinVar |
| 11 | g.5254416T>C | CA379264397 | HBG2 | c.191A>G (p.His64Arg) c.26A>G (p.His9Arg) c.1737A>G (n.1737A>G) c.161A>G (p.His54Arg) c.*60A>G (n.*60A>G) c.164T>C (p.Met55Thr) | |
| 11 | g.5254416T>G | CA379264398 | HBG2 | c.191A>C (p.His64Pro) c.26A>C (p.His9Pro) c.1737A>C (n.1737A>C) c.161A>C (p.His54Pro) c.*60A>C (n.*60A>C) c.164T>G (p.Met55Arg) | |
| 11 | g.5254417G>A | CA124542 | HBG2 | c.190C>T (p.His64Tyr) c.25C>T (p.His9Tyr) c.1736C>T (n.1736C>T) c.160C>T (p.His54Tyr) c.*59C>T (n.*59C>T) c.165G>A (p.Met55Ile) | ClinVar dbSNP |
| 11 | g.5254417G>C | CA379264399 | HBG2 | c.190C>G (p.His64Asp) c.25C>G (p.His9Asp) c.1736C>G (n.1736C>G) c.160C>G (p.His54Asp) c.*59C>G (n.*59C>G) c.165G>C (p.Met55Ile) | |
| 11 | g.5254417G= | CA1949577453 | HBG2 | c.190C= (p.His64=) c.25C= (p.His9=) c.1736C= (n.1736C=) c.160C= (p.His54=) c.*59C= (n.*59C=) c.165G= (p.Met55=) | |
| 11 | g.5254417G>T | CA379264400 | HBG2 | c.190C>A (p.His64Asn) c.25C>A (p.His9Asn) c.1736C>A (n.1736C>A) c.160C>A (p.His54Asn) c.*59C>A (n.*59C>A) c.165G>T (p.Met55Ile) | |
| 11 | g.5254418T>A | CA379264401 | HBG2 | c.189A>T (p.Ala63=) c.24A>T (p.Ala8=) c.1735A>T (n.1735A>T) c.159A>T (p.Ala53=) c.*58A>T (n.*58A>T) c.166T>A (p.Cys56Ser) | gnomAD v4 |
| 11 | g.5254418T>C | CA379264402 | HBG2 | c.189A>G (p.Ala63=) c.24A>G (p.Ala8=) c.1735A>G (n.1735A>G) c.159A>G (p.Ala53=) c.*58A>G (n.*58A>G) c.166T>C (p.Cys56Arg) | gnomAD v4 |
| 11 | g.5254418T>G | CA379264403 | HBG2 | c.189A>C (p.Ala63=) c.24A>C (p.Ala8=) c.1735A>C (n.1735A>C) c.159A>C (p.Ala53=) c.*58A>C (n.*58A>C) c.166T>G (p.Cys56Gly) | |
| 11 | g.5254419G>A | CA379264404 | HBG2 | c.188C>T (p.Ala63Val) c.23C>T (p.Ala8Val) c.1734C>T (n.1734C>T) c.158C>T (p.Ala53Val) c.*57C>T (n.*57C>T) c.167G>A (p.Cys56Tyr) | |
| 11 | g.5254419G>C | CA217121323 | HBG2 | c.188C>G (p.Ala63Gly) c.23C>G (p.Ala8Gly) c.1734C>G (n.1734C>G) c.158C>G (p.Ala53Gly) c.*57C>G (n.*57C>G) c.167G>C (p.Cys56Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5254419G= | CA1949577455 | HBG2 | c.188C= (p.Ala63=) c.23C= (p.Ala8=) c.1734C= (n.1734C=) c.158C= (p.Ala53=) c.*57C= (n.*57C=) c.167G= (p.Cys56=) | |
| 11 | g.5254419G>T | CA379264405 | HBG2 | c.188C>A (p.Ala63Glu) c.23C>A (p.Ala8Glu) c.1734C>A (n.1734C>A) c.158C>A (p.Ala53Glu) c.*57C>A (n.*57C>A) c.167G>T (p.Cys56Phe) | |
| 11 | g.5254420C>A | CA379264406 | HBG2 | c.187G>T (p.Ala63Ser) c.22G>T (p.Ala8Ser) c.1733G>T (n.1733G>T) c.157G>T (p.Ala53Ser) c.*56G>T (n.*56G>T) c.168C>A (p.Cys56Ter) | |
| 11 | g.5254420C>G | CA379264407 | HBG2 | c.187G>C (p.Ala63Pro) c.22G>C (p.Ala8Pro) c.1733G>C (n.1733G>C) c.157G>C (p.Ala53Pro) c.*56G>C (n.*56G>C) c.168C>G (p.Cys56Trp) | |
| 11 | g.5254420C>T | CA379264408 | HBG2 | c.187G>A (p.Ala63Thr) c.22G>A (p.Ala8Thr) c.1733G>A (n.1733G>A) c.157G>A (p.Ala53Thr) c.*56G>A (n.*56G>A) c.168C>T (p.Cys56=) | gnomAD v4 |
| 11 | g.5254421C>A | CA379264409 | HBG2 | c.186G>T (p.Lys62Asn) c.21G>T (p.Lys7Asn) c.1732G>T (n.1732G>T) c.156G>T (p.Lys52Asn) c.*55G>T (n.*55G>T) c.169C>A (p.Leu57Ile) | |
| 11 | g.5254421C>G | CA379264410 | HBG2 | c.186G>C (p.Lys62Asn) c.21G>C (p.Lys7Asn) c.1732G>C (n.1732G>C) c.156G>C (p.Lys52Asn) c.*55G>C (n.*55G>C) c.169C>G (p.Leu57Val) | |
| 11 | g.5254421C>T | CA379264411 | HBG2 | c.186G>A (p.Lys62=) c.21G>A (p.Lys7=) c.1732G>A (n.1732G>A) c.156G>A (p.Lys52=) c.*55G>A (n.*55G>A) c.169C>T (p.Leu57Phe) | gnomAD v4 |
| 11 | g.5254422T>A | CA379264413 | HBG2 | c.185A>T (p.Lys62Met) c.20A>T (p.Lys7Met) c.1731A>T (n.1731A>T) c.155A>T (p.Lys52Met) c.*54A>T (n.*54A>T) c.170T>A (p.Leu57His) | |
| 11 | g.5254422T>C | CA217121327 | HBG2 | c.185A>G (p.Lys62Arg) c.20A>G (p.Lys7Arg) c.1731A>G (n.1731A>G) c.155A>G (p.Lys52Arg) c.*54A>G (n.*54A>G) c.170T>C (p.Leu57Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5254422T>G | CA379264412 | HBG2 | c.185A>C (p.Lys62Thr) c.20A>C (p.Lys7Thr) c.1731A>C (n.1731A>C) c.155A>C (p.Lys52Thr) c.*54A>C (n.*54A>C) c.170T>G (p.Leu57Arg) | |
| 11 | g.5254422T= | CA1949577458 | HBG2 | c.185A= (p.Lys62=) c.20A= (p.Lys7=) c.1731A= (n.1731A=) c.155A= (p.Lys52=) c.*54A= (n.*54A=) c.170T= (p.Leu57=) | |
| 11 | g.5254423T>A | CA379264414 | HBG2 | c.184A>T (p.Lys62Ter) c.19A>T (p.Lys7Ter) c.1730A>T (n.1730A>T) c.154A>T (p.Lys52Ter) c.*53A>T (n.*53A>T) c.171T>A (p.Leu57=) |