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 |
|---|---|---|---|---|---|
| 15 | g.80591684G>A | CA7692245 | ARNT2 | c.2035G>A (p.Gly679Ser) c.2002G>A (p.Gly668Ser) c.*333G>A (n.*333G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.80591684G>C | CA393625369 | ARNT2 | c.2035G>C (p.Gly679Arg) c.2002G>C (p.Gly668Arg) c.*333G>C (n.*333G>C) | |
| 15 | g.80591684G= | CA2190489718 | ARNT2 | c.2035G= (p.Gly679=) c.2002G= (p.Gly668=) c.*333G= (n.*333G=) | |
| 15 | g.80591684G>T | CA393625372 | ARNT2 | c.2035G>T (p.Gly679Cys) c.2002G>T (p.Gly668Cys) c.*333G>T (n.*333G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.80591685G>A | CA393625375 | ARNT2 | c.2036G>A (p.Gly679Asp) c.2003G>A (p.Gly668Asp) c.*334G>A (n.*334G>A) | |
| 15 | g.80591685G>C | CA393625377 | ARNT2 | c.2036G>C (p.Gly679Ala) c.2003G>C (p.Gly668Ala) c.*334G>C (n.*334G>C) | |
| 15 | g.80591685G>T | CA393625379 | ARNT2 | c.2036G>T (p.Gly679Val) c.2003G>T (p.Gly668Val) c.*334G>T (n.*334G>T) | COSMIC |
| 15 | g.80591686T>A | CA491688782 | ARNT2 | c.2037T>A (p.Gly679=) c.2004T>A (p.Gly668=) c.*335T>A (n.*335T>A) | |
| 15 | g.80591686T>C | CA491688781 | ARNT2 | c.2037T>C (p.Gly679=) c.2004T>C (p.Gly668=) c.*335T>C (n.*335T>C) | |
| 15 | g.80591686T>G | CA491688780 | ARNT2 | c.2037T>G (p.Gly679=) c.2004T>G (p.Gly668=) c.*335T>G (n.*335T>G) | |
| 15 | g.80591687C>A | CA393625381 | ARNT2 | c.2038C>A (p.Gln680Lys) c.2005C>A (p.Gln669Lys) c.*336C>A (n.*336C>A) | |
| 15 | g.80591687C>G | CA393625384 | ARNT2 | c.2038C>G (p.Gln680Glu) c.2005C>G (p.Gln669Glu) c.*336C>G (n.*336C>G) | gnomAD v3 gnomAD v4 |
| 15 | g.80591687C>T | CA393625387 | ARNT2 | c.2038C>T (p.Gln680Ter) c.2005C>T (p.Gln669Ter) c.*336C>T (n.*336C>T) | |
| 15 | g.80591688A>C | CA393625394 | ARNT2 | c.2039A>C (p.Gln680Pro) c.2006A>C (p.Gln669Pro) c.*337A>C (n.*337A>C) | |
| 15 | g.80591688A>G | CA393625391 | ARNT2 | c.2039A>G (p.Gln680Arg) c.2006A>G (p.Gln669Arg) c.*337A>G (n.*337A>G) | |
| 15 | g.80591688A>T | CA393625389 | ARNT2 | c.2039A>T (p.Gln680Leu) c.2006A>T (p.Gln669Leu) c.*337A>T (n.*337A>T) | |
| 15 | g.80591689G>A | CA491688783 | ARNT2 | c.2040G>A (p.Gln680=) c.2007G>A (p.Gln669=) c.*338G>A (n.*338G>A) | |
| 15 | g.80591689G>C | CA393625397 | ARNT2 | c.2040G>C (p.Gln680His) c.2007G>C (p.Gln669His) c.*338G>C (n.*338G>C) | |
| 15 | g.80591689G>T | CA393625399 | ARNT2 | c.2040G>T (p.Gln680His) c.2007G>T (p.Gln669His) c.*338G>T (n.*338G>T) | |
| 15 | g.80591690A>C | CA393625402 | ARNT2 | c.2041A>C (p.Thr681Pro) c.2008A>C (p.Thr670Pro) c.*339A>C (n.*339A>C) | |
| 15 | g.80591690A>G | CA393625404 | ARNT2 | c.2041A>G (p.Thr681Ala) c.2008A>G (p.Thr670Ala) c.*339A>G (n.*339A>G) | |
| 15 | g.80591690A>T | CA393625406 | ARNT2 | c.2041A>T (p.Thr681Ser) c.2008A>T (p.Thr670Ser) c.*339A>T (n.*339A>T) | |
| 15 | g.80591691C>A | CA393625409 | ARNT2 | c.2042C>A (p.Thr681Asn) c.2009C>A (p.Thr670Asn) c.*340C>A (n.*340C>A) | |
| 15 | g.80591691C= | CA2190489721 | ARNT2 | c.2042C= (p.Thr681=) c.2009C= (p.Thr670=) c.*340C= (n.*340C=) | |
| 15 | g.80591691C>G | CA393625410 | ARNT2 | c.2042C>G (p.Thr681Ser) c.2009C>G (p.Thr670Ser) c.*340C>G (n.*340C>G) | |
| 15 | g.80591691C>T | CA393625413 | ARNT2 | c.2042C>T (p.Thr681Ile) c.2009C>T (p.Thr670Ile) c.*340C>T (n.*340C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.80591692T>A | CA491688784 | ARNT2 | c.2043T>A (p.Thr681=) c.2010T>A (p.Thr670=) c.*341T>A (n.*341T>A) | |
| 15 | g.80591692T>C | CA491688785 | ARNT2 | c.2043T>C (p.Thr681=) c.2010T>C (p.Thr670=) c.*341T>C (n.*341T>C) | |
| 15 | g.80591692T>G | CA491688786 | ARNT2 | c.2043T>G (p.Thr681=) c.2010T>G (p.Thr670=) c.*341T>G (n.*341T>G) | |
| 15 | g.80591693G>A | CA393625421 | ARNT2 | c.2044G>A (p.Glu682Lys) c.2011G>A (p.Glu671Lys) c.*342G>A (n.*342G>A) | |
| 15 | g.80591693G>C | CA393625419 | ARNT2 | c.2044G>C (p.Glu682Gln) c.2011G>C (p.Glu671Gln) c.*342G>C (n.*342G>C) | |
| 15 | g.80591693G>T | CA393625416 | ARNT2 | c.2044G>T (p.Glu682Ter) c.2011G>T (p.Glu671Ter) c.*342G>T (n.*342G>T) | |
| 15 | g.80591694A>C | CA393625425 | ARNT2 | c.2045A>C (p.Glu682Ala) c.2012A>C (p.Glu671Ala) c.*343A>C (n.*343A>C) | gnomAD v4 |
| 15 | g.80591694A>G | CA393625427 | ARNT2 | c.2045A>G (p.Glu682Gly) c.2012A>G (p.Glu671Gly) c.*343A>G (n.*343A>G) | gnomAD v4 |
| 15 | g.80591694A>T | CA393625430 | ARNT2 | c.2045A>T (p.Glu682Val) c.2012A>T (p.Glu671Val) c.*343A>T (n.*343A>T) | |
| 15 | g.80591695A= | CA2190489724 | ARNT2 | c.2046A= (p.Glu682=) c.2013A= (p.Glu671=) c.*344A= (n.*344A=) | |
| 15 | g.80591695A>C | CA393625433 | ARNT2 | c.2046A>C (p.Glu682Asp) c.2013A>C (p.Glu671Asp) c.*344A>C (n.*344A>C) | |
| 15 | g.80591695A>G | CA7692246 | ARNT2 | c.2046A>G (p.Glu682=) c.2013A>G (p.Glu671=) c.*344A>G (n.*344A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.80591695A>T | CA393625437 | ARNT2 | c.2046A>T (p.Glu682Asp) c.2013A>T (p.Glu671Asp) c.*344A>T (n.*344A>T) | |
| 15 | g.80591696G>A | CA7692247 | ARNT2 | c.2047G>A (p.Val683Met) c.2014G>A (p.Val672Met) c.*345G>A (n.*345G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.80591696G>C | CA393625444 | ARNT2 | c.2047G>C (p.Val683Leu) c.2014G>C (p.Val672Leu) c.*345G>C (n.*345G>C) | |
| 15 | g.80591696G= | CA2190489728 | ARNT2 | c.2047G= (p.Val683=) c.2014G= (p.Val672=) c.*345G= (n.*345G=) | |
| 15 | g.80591696G>T | CA393625441 | ARNT2 | c.2047G>T (p.Val683Leu) c.2014G>T (p.Val672Leu) c.*345G>T (n.*345G>T) | COSMIC |
| 15 | g.80591697T>A | CA393625447 | ARNT2 | c.2048T>A (p.Val683Glu) c.2015T>A (p.Val672Glu) c.*346T>A (n.*346T>A) | |
| 15 | g.80591697T>C | CA393625449 | ARNT2 | c.2048T>C (p.Val683Ala) c.2015T>C (p.Val672Ala) c.*346T>C (n.*346T>C) | |
| 15 | g.80591697T>G | CA393625451 | ARNT2 | c.2048T>G (p.Val683Gly) c.2015T>G (p.Val672Gly) c.*346T>G (n.*346T>G) | gnomAD v4 |
| 15 | g.80591698G>A | CA491688788 | ARNT2 | c.2049G>A (p.Val683=) c.2016G>A (p.Val672=) c.*347G>A (n.*347G>A) | dbSNP |
| 15 | g.80591698G>C | CA491688789 | ARNT2 | c.2049G>C (p.Val683=) c.2016G>C (p.Val672=) c.*347G>C (n.*347G>C) | |
| 15 | g.80591698G= | CA2190489733 | ARNT2 | c.2049G= (p.Val683=) c.2016G= (p.Val672=) c.*347G= (n.*347G=) | |
| 15 | g.80591698G>T | CA491688790 | ARNT2 | c.2049G>T (p.Val683=) c.2016G>T (p.Val672=) c.*347G>T (n.*347G>T) | ClinVar dbSNP |