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 |
|---|---|---|---|---|---|
| 5 | g.128261752T>A | CA360747075 | FBN2 | c.8348A>T (p.Glu2783Val) c.8345A>T (p.Glu2782Val) c.8195A>T (p.Glu2732Val) | |
| 5 | g.128261752T>C | CA360747077 | FBN2 | c.8348A>G (p.Glu2783Gly) c.8345A>G (p.Glu2782Gly) c.8195A>G (p.Glu2732Gly) | |
| 5 | g.128261752T>G | CA360747079 | FBN2 | c.8348A>C (p.Glu2783Ala) c.8345A>C (p.Glu2782Ala) c.8195A>C (p.Glu2732Ala) | |
| 5 | g.128261753C>A | CA360747085 | FBN2 | c.8347G>T (p.Glu2783Ter) c.8344G>T (p.Glu2782Ter) c.8194G>T (p.Glu2732Ter) | |
| 5 | g.128261753C= | CA1581234813 | FBN2 | c.8347G= (p.Glu2783=) c.8344G= (p.Glu2782=) c.8194G= (p.Glu2732=) | |
| 5 | g.128261753C>G | CA288845 | FBN2 | c.8347G>C (p.Glu2783Gln) c.8344G>C (p.Glu2782Gln) c.8194G>C (p.Glu2732Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128261753C>T | CA360747081 | FBN2 | c.8347G>A (p.Glu2783Lys) c.8344G>A (p.Glu2782Lys) c.8194G>A (p.Glu2732Lys) | gnomAD v4 |
| 5 | g.128261754A= | CA1581234814 | FBN2 | c.8346T= (p.His2782=) c.8343T= (p.His2781=) c.8193T= (p.His2731=) | |
| 5 | g.128261754A>C | CA360747088 | FBN2 | c.8346T>G (p.His2782Gln) c.8343T>G (p.His2781Gln) c.8193T>G (p.His2731Gln) | |
| 5 | g.128261754A>G | CA446305643 | FBN2 | c.8346T>C (p.His2782=) c.8343T>C (p.His2781=) c.8193T>C (p.His2731=) | |
| 5 | g.128261754A>T | CA360747090 | FBN2 | c.8346T>A (p.His2782Gln) c.8343T>A (p.His2781Gln) c.8193T>A (p.His2731Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128261755T>A | CA360747092 | FBN2 | c.8345A>T (p.His2782Leu) c.8342A>T (p.His2781Leu) c.8192A>T (p.His2731Leu) | gnomAD v4 |
| 5 | g.128261755T>C | CA360747093 | FBN2 | c.8345A>G (p.His2782Arg) c.8342A>G (p.His2781Arg) c.8192A>G (p.His2731Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128261755T>G | CA360747094 | FBN2 | c.8345A>C (p.His2782Pro) c.8342A>C (p.His2781Pro) c.8192A>C (p.His2731Pro) | |
| 5 | g.128261755T= | CA1581234815 | FBN2 | c.8345A= (p.His2782=) c.8342A= (p.His2781=) c.8192A= (p.His2731=) | |
| 5 | g.128261756G>A | CA320086 | FBN2 | c.8344C>T (p.His2782Tyr) c.8341C>T (p.His2781Tyr) c.8191C>T (p.His2731Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128261756G>C | CA360747100 | FBN2 | c.8344C>G (p.His2782Asp) c.8341C>G (p.His2781Asp) c.8191C>G (p.His2731Asp) | |
| 5 | g.128261756G= | CA1581234816 | FBN2 | c.8344C= (p.His2782=) c.8341C= (p.His2781=) c.8191C= (p.His2731=) | |
| 5 | g.128261756G>T | CA127003600 | FBN2 | c.8344C>A (p.His2782Asn) c.8341C>A (p.His2781Asn) c.8191C>A (p.His2731Asn) | dbSNP gnomAD v4 |
| 5 | g.128261757A>C | CA360747103 | FBN2 | c.8343T>G (p.Ile2781Met) c.8340T>G (p.Ile2780Met) c.8190T>G (p.Ile2730Met) | |
| 5 | g.128261757A>G | CA446305644 | FBN2 | c.8343T>C (p.Ile2781=) c.8340T>C (p.Ile2780=) c.8190T>C (p.Ile2730=) | |
| 5 | g.128261757A>T | CA446305645 | FBN2 | c.8343T>A (p.Ile2781=) c.8340T>A (p.Ile2780=) c.8190T>A (p.Ile2730=) | |
| 5 | g.128261758_128261760dup | CA2578395545 | FBN2 | c.8341_8343dup (p.Ile2781_His2782insIle) c.8338_8340dup (p.Ile2780_His2781insIle) c.8188_8190dup (p.Ile2730_His2731insIle) | |
| 5 | g.128261758A>C | CA360747106 | FBN2 | c.8342T>G (p.Ile2781Ser) c.8339T>G (p.Ile2780Ser) c.8189T>G (p.Ile2730Ser) | |
| 5 | g.128261758A>G | CA360747108 | FBN2 | c.8342T>C (p.Ile2781Thr) c.8339T>C (p.Ile2780Thr) c.8189T>C (p.Ile2730Thr) | |
| 5 | g.128261758A>T | CA360747110 | FBN2 | c.8342T>A (p.Ile2781Asn) c.8339T>A (p.Ile2780Asn) c.8189T>A (p.Ile2730Asn) | |
| 5 | g.128261759T>A | CA360747112 | FBN2 | c.8341A>T (p.Ile2781Phe) c.8338A>T (p.Ile2780Phe) c.8188A>T (p.Ile2730Phe) | |
| 5 | g.128261759T>C | CA360747115 | FBN2 | c.8341A>G (p.Ile2781Val) c.8338A>G (p.Ile2780Val) c.8188A>G (p.Ile2730Val) | gnomAD v4 |
| 5 | g.128261759T>G | CA360747117 | FBN2 | c.8341A>C (p.Ile2781Leu) c.8338A>C (p.Ile2780Leu) c.8188A>C (p.Ile2730Leu) | |
| 5 | g.128261760A>C | CA360747121 | FBN2 | c.8340T>G (p.Ser2780Arg) c.8337T>G (p.Ser2779Arg) c.8187T>G (p.Ser2729Arg) | |
| 5 | g.128261760A>G | CA446305646 | FBN2 | c.8340T>C (p.Ser2780=) c.8337T>C (p.Ser2779=) c.8187T>C (p.Ser2729=) | |
| 5 | g.128261760A>T | CA360747119 | FBN2 | c.8340T>A (p.Ser2780Arg) c.8337T>A (p.Ser2779Arg) c.8187T>A (p.Ser2729Arg) | |
| 5 | g.128261761C>A | CA360747124 | FBN2 | c.8339G>T (p.Ser2780Ile) c.8336G>T (p.Ser2779Ile) c.8186G>T (p.Ser2729Ile) | |
| 5 | g.128261761C= | CA1581234817 | FBN2 | c.8339G= (p.Ser2780=) c.8336G= (p.Ser2779=) c.8186G= (p.Ser2729=) | |
| 5 | g.128261761C>G | CA360747126 | FBN2 | c.8339G>C (p.Ser2780Thr) c.8336G>C (p.Ser2779Thr) c.8186G>C (p.Ser2729Thr) | |
| 5 | g.128261761C>T | CA360747127 | FBN2 | c.8339G>A (p.Ser2780Asn) c.8336G>A (p.Ser2779Asn) c.8186G>A (p.Ser2729Asn) | dbSNP |
| 5 | g.128261762T>A | CA360747128 | FBN2 | c.8338A>T (p.Ser2780Cys) c.8335A>T (p.Ser2779Cys) c.8185A>T (p.Ser2729Cys) | |
| 5 | g.128261762T>C | CA360747129 | FBN2 | c.8338A>G (p.Ser2780Gly) c.8335A>G (p.Ser2779Gly) c.8185A>G (p.Ser2729Gly) | |
| 5 | g.128261762T>G | CA360747130 | FBN2 | c.8338A>C (p.Ser2780Arg) c.8335A>C (p.Ser2779Arg) c.8185A>C (p.Ser2729Arg) | |
| 5 | g.128261763T>A | CA360747133 | FBN2 | c.8337A>T (p.Arg2779Ser) c.8334A>T (p.Arg2778Ser) c.8184A>T (p.Arg2728Ser) | |
| 5 | g.128261763T>C | CA446305647 | FBN2 | c.8337A>G (p.Arg2779=) c.8334A>G (p.Arg2778=) c.8184A>G (p.Arg2728=) | |
| 5 | g.128261763T>G | CA360747135 | FBN2 | c.8337A>C (p.Arg2779Ser) c.8334A>C (p.Arg2778Ser) c.8184A>C (p.Arg2728Ser) | |
| 5 | g.128261764C>A | CA360747139 | FBN2 | c.8336G>T (p.Arg2779Ile) c.8333G>T (p.Arg2778Ile) c.8183G>T (p.Arg2728Ile) | |
| 5 | g.128261764C>G | CA360747142 | FBN2 | c.8336G>C (p.Arg2779Thr) c.8333G>C (p.Arg2778Thr) c.8183G>C (p.Arg2728Thr) | |
| 5 | g.128261764C>T | CA360747144 | FBN2 | c.8336G>A (p.Arg2779Lys) c.8333G>A (p.Arg2778Lys) c.8183G>A (p.Arg2728Lys) | |
| 5 | g.128261765del | CA2695205137 | FBN2 | c.8335del (p.Arg2779GlufsTer16) c.8332del (p.Arg2778GlufsTer16) c.8182del (p.Arg2728GlufsTer16) | |
| 5 | g.128261765T>A | CA360747146 | FBN2 | c.8335A>T (p.Arg2779Ter) c.8332A>T (p.Arg2778Ter) c.8182A>T (p.Arg2728Ter) | |
| 5 | g.128261765T>C | CA360747148 | FBN2 | c.8335A>G (p.Arg2779Gly) c.8332A>G (p.Arg2778Gly) c.8182A>G (p.Arg2728Gly) | |
| 5 | g.128261765T>G | CA446305648 | FBN2 | c.8335A>C (p.Arg2779=) c.8332A>C (p.Arg2778=) c.8182A>C (p.Arg2728=) | |
| 5 | g.128261766C>A | CA360747151 | FBN2 | c.8334G>T (p.Lys2778Asn) c.8331G>T (p.Lys2777Asn) c.8181G>T (p.Lys2727Asn) |