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.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=) | |
| 11 | g.5254423T>C | CA379264415 | HBG2 | c.184A>G (p.Lys62Glu) c.19A>G (p.Lys7Glu) c.1730A>G (n.1730A>G) c.154A>G (p.Lys52Glu) c.*53A>G (n.*53A>G) c.171T>C (p.Leu57=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254423T>G | CA379264416 | HBG2 | c.184A>C (p.Lys62Gln) c.19A>C (p.Lys7Gln) c.1730A>C (n.1730A>C) c.154A>C (p.Lys52Gln) c.*53A>C (n.*53A>C) c.171T>G (p.Leu57=) | |
| 11 | g.5254423T= | CA1949577461 | HBG2 | c.184A= (p.Lys62=) c.19A= (p.Lys7=) c.1730A= (n.1730A=) c.154A= (p.Lys52=) c.*53A= (n.*53A=) c.171T= (p.Leu57=) | |
| 11 | g.5254424G>A | CA379264417 | HBG2 | c.183C>T (p.Val61=) c.18C>T (p.Val6=) c.1729C>T (n.1729C>T) c.153C>T (p.Val51=) c.*52C>T (n.*52C>T) c.172G>A (p.Asp58Asn) | gnomAD v4 COSMIC |
| 11 | g.5254424G>C | CA379264418 | HBG2 | c.183C>G (p.Val61=) c.18C>G (p.Val6=) c.1729C>G (n.1729C>G) c.153C>G (p.Val51=) c.*52C>G (n.*52C>G) c.172G>C (p.Asp58His) | |
| 11 | g.5254424G>T | CA379264419 | HBG2 | c.183C>A (p.Val61=) c.18C>A (p.Val6=) c.1729C>A (n.1729C>A) c.153C>A (p.Val51=) c.*52C>A (n.*52C>A) c.172G>T (p.Asp58Tyr) | |
| 11 | g.5254425A>C | CA379264422 | HBG2 | c.182T>G (p.Val61Gly) c.17T>G (p.Val6Gly) c.1728T>G (n.1728T>G) c.152T>G (p.Val51Gly) c.*51T>G (n.*51T>G) c.173A>C (p.Asp58Ala) | |
| 11 | g.5254425A>G | CA379264420 | HBG2 | c.182T>C (p.Val61Ala) c.17T>C (p.Val6Ala) c.1728T>C (n.1728T>C) c.152T>C (p.Val51Ala) c.*51T>C (n.*51T>C) c.173A>G (p.Asp58Gly) | COSMIC |
| 11 | g.5254425A>T | CA379264421 | HBG2 | c.182T>A (p.Val61Asp) c.17T>A (p.Val6Asp) c.1728T>A (n.1728T>A) c.152T>A (p.Val51Asp) c.*51T>A (n.*51T>A) c.173A>T (p.Asp58Val) | |
| 11 | g.5254426C>A | CA379264423 | HBG2 | c.181G>T (p.Val61Phe) c.16G>T (p.Val6Phe) c.1727G>T (n.1727G>T) c.151G>T (p.Val51Phe) c.*50G>T (n.*50G>T) c.174C>A (p.Asp58Glu) | |
| 11 | g.5254426C= | CA1949577463 | HBG2 | c.181G= (p.Val61=) c.16G= (p.Val6=) c.1727G= (n.1727G=) c.151G= (p.Val51=) c.*50G= (n.*50G=) c.174C= (p.Asp58=) | |
| 11 | g.5254426C>G | CA379264424 | HBG2 | c.181G>C (p.Val61Leu) c.16G>C (p.Val6Leu) c.1727G>C (n.1727G>C) c.151G>C (p.Val51Leu) c.*50G>C (n.*50G>C) c.174C>G (p.Asp58Glu) | |
| 11 | g.5254426C>T | CA5840267 | HBG2 | c.181G>A (p.Val61Ile) c.16G>A (p.Val6Ile) c.1727G>A (n.1727G>A) c.151G>A (p.Val51Ile) c.*50G>A (n.*50G>A) c.174C>T (p.Asp58=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.5254427T>A | CA379264425 | HBG2 | c.180A>T (p.Lys60Asn) c.15A>T (p.Lys5Asn) c.1726A>T (n.1726A>T) c.150A>T (p.Lys50Asn) c.*49A>T (n.*49A>T) c.175T>A (p.Phe59Ile) | |
| 11 | g.5254427T>C | CA379264426 | HBG2 | c.180A>G (p.Lys60=) c.15A>G (p.Lys5=) c.1726A>G (n.1726A>G) c.150A>G (p.Lys50=) c.*49A>G (n.*49A>G) c.175T>C (p.Phe59Leu) | |
| 11 | g.5254427T>G | CA379264427 | HBG2 | c.180A>C (p.Lys60Asn) c.15A>C (p.Lys5Asn) c.1726A>C (n.1726A>C) c.150A>C (p.Lys50Asn) c.*49A>C (n.*49A>C) c.175T>G (p.Phe59Val) | |
| 11 | g.5254429del | CA2612152377 | HBG2 | c.180del (p.Val61SerfsTer9) c.15del (p.Val6SerfsTer9) c.1726del (n.1726del) c.150del (p.Val51SerfsTer9) c.*49del (n.*49del) c.177del (p.Phe59LeufsTer25) | gnomAD v4 |
| 11 | g.5254428T>A | CA379264428 | HBG2 | c.179A>T (p.Lys60Ile) c.14A>T (p.Lys5Ile) c.1725A>T (n.1725A>T) c.149A>T (p.Lys50Ile) c.*48A>T (n.*48A>T) c.176T>A (p.Phe59Tyr) |