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 |
|---|---|---|---|---|---|
| 20 | g.48953609T>A | CA511014009 | ARFGEF2 | c.657T>A (p.Pro219=) n.214T>A c.*340T>A (n.*340T>A) | |
| 20 | g.48953609T>C | CA511014011 | ARFGEF2 | c.657T>C (p.Pro219=) n.214T>C c.*340T>C (n.*340T>C) | |
| 20 | g.48953609T>G | CA511014012 | ARFGEF2 | c.657T>G (p.Pro219=) n.214T>G c.*340T>G (n.*340T>G) | |
| 20 | g.48953610G>A | CA409320313 | ARFGEF2 | c.658G>A (p.Val220Met) n.215G>A c.*341G>A (n.*341G>A) | gnomAD v4 |
| 20 | g.48953610G>C | CA409320314 | ARFGEF2 | c.658G>C (p.Val220Leu) n.215G>C c.*341G>C (n.*341G>C) | |
| 20 | g.48953610G>T | CA409320315 | ARFGEF2 | c.658G>T (p.Val220Leu) n.215G>T c.*341G>T (n.*341G>T) | |
| 20 | g.48953611T>A | CA409320316 | ARFGEF2 | c.659T>A (p.Val220Glu) n.216T>A c.*342T>A (n.*342T>A) | |
| 20 | g.48953611T>C | CA409320317 | ARFGEF2 | c.659T>C (p.Val220Ala) n.216T>C c.*342T>C (n.*342T>C) | |
| 20 | g.48953611T>G | CA409320320 | ARFGEF2 | c.659T>G (p.Val220Gly) n.216T>G c.*342T>G (n.*342T>G) | |
| 20 | g.48953612G>A | CA511014013 | ARFGEF2 | c.660G>A (p.Val220=) n.217G>A c.*343G>A (n.*343G>A) | |
| 20 | g.48953612G>C | CA511014014 | ARFGEF2 | c.660G>C (p.Val220=) n.217G>C c.*343G>C (n.*343G>C) | |
| 20 | g.48953612G>T | CA511014015 | ARFGEF2 | c.660G>T (p.Val220=) n.217G>T c.*343G>T (n.*343G>T) | |
| 20 | g.48953613A>C | CA409320326 | ARFGEF2 | c.661A>C (p.Ile221Leu) n.218A>C c.*344A>C (n.*344A>C) | |
| 20 | g.48953613A>G | CA409320324 | ARFGEF2 | c.661A>G (p.Ile221Val) n.218A>G c.*344A>G (n.*344A>G) | |
| 20 | g.48953613A>T | CA409320321 | ARFGEF2 | c.661A>T (p.Ile221Phe) n.218A>T c.*344A>T (n.*344A>T) | |
| 20 | g.48953614T>A | CA409320334 | ARFGEF2 | c.662T>A (p.Ile221Asn) n.219T>A c.*345T>A (n.*345T>A) | |
| 20 | g.48953614T>C | CA409320328 | ARFGEF2 | c.662T>C (p.Ile221Thr) n.219T>C c.*345T>C (n.*345T>C) | |
| 20 | g.48953614T>G | CA409320331 | ARFGEF2 | c.662T>G (p.Ile221Ser) n.219T>G c.*345T>G (n.*345T>G) | |
| 20 | g.48953615C>A | CA511014019 | ARFGEF2 | c.663C>A (p.Ile221=) n.220C>A c.*346C>A (n.*346C>A) | |
| 20 | g.48953615C>G | CA409320336 | ARFGEF2 | c.663C>G (p.Ile221Met) n.220C>G c.*346C>G (n.*346C>G) | |
| 20 | g.48953615C>T | CA511014020 | ARFGEF2 | c.663C>T (p.Ile221=) n.220C>T c.*346C>T (n.*346C>T) | |
| 20 | g.48953616C>A | CA409320337 | ARFGEF2 | c.664C>A (p.Gln222Lys) n.221C>A c.*347C>A (n.*347C>A) | |
| 20 | g.48953616C>G | CA409320339 | ARFGEF2 | c.664C>G (p.Gln222Glu) n.221C>G c.*347C>G (n.*347C>G) | |
| 20 | g.48953616C>T | CA409320342 | ARFGEF2 | c.664C>T (p.Gln222Ter) n.221C>T c.*347C>T (n.*347C>T) | |
| 20 | g.48953617A= | CA2367840166 | ARFGEF2 | c.665A= (p.Gln222=) n.222A= c.*348A= (n.*348A=) | |
| 20 | g.48953617A>C | CA409320350 | ARFGEF2 | c.665A>C (p.Gln222Pro) n.222A>C c.*348A>C (n.*348A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.48953617A>G | CA409320345 | ARFGEF2 | c.665A>G (p.Gln222Arg) n.222A>G c.*348A>G (n.*348A>G) | |
| 20 | g.48953617A>T | CA409320347 | ARFGEF2 | c.665A>T (p.Gln222Leu) n.222A>T c.*348A>T (n.*348A>T) | |
| 20 | g.48953618A>C | CA409320361 | ARFGEF2 | c.666A>C (p.Gln222His) n.223A>C c.*349A>C (n.*349A>C) | |
| 20 | g.48953618A>G | CA511014024 | ARFGEF2 | c.666A>G (p.Gln222=) n.223A>G c.*349A>G (n.*349A>G) | |
| 20 | g.48953618A>T | CA409320362 | ARFGEF2 | c.666A>T (p.Gln222His) n.223A>T c.*349A>T (n.*349A>T) | |
| 20 | g.48953619G>A | CA409320366 | ARFGEF2 | c.667G>A (p.Ala223Thr) n.224G>A c.*350G>A (n.*350G>A) | |
| 20 | g.48953619G>C | CA409320368 | ARFGEF2 | c.667G>C (p.Ala223Pro) n.224G>C c.*350G>C (n.*350G>C) | |
| 20 | g.48953619G>T | CA409320372 | ARFGEF2 | c.667G>T (p.Ala223Ser) n.224G>T c.*350G>T (n.*350G>T) | |
| 20 | g.48953620C>A | CA409320382 | ARFGEF2 | c.668C>A (p.Ala223Asp) n.225C>A c.*351C>A (n.*351C>A) | |
| 20 | g.48953620C>G | CA409320389 | ARFGEF2 | c.668C>G (p.Ala223Gly) n.225C>G c.*351C>G (n.*351C>G) | |
| 20 | g.48953620C>T | CA409320384 | ARFGEF2 | c.668C>T (p.Ala223Val) n.225C>T c.*351C>T (n.*351C>T) | gnomAD v4 |
| 20 | g.48953621T>A | CA511014028 | ARFGEF2 | c.669T>A (p.Ala223=) n.226T>A c.*352T>A (n.*352T>A) | |
| 20 | g.48953621T>C | CA315902347 | ARFGEF2 | c.669T>C (p.Ala223=) n.226T>C c.*352T>C (n.*352T>C) | dbSNP gnomAD v4 |
| 20 | g.48953621T>G | CA511014029 | ARFGEF2 | c.669T>G (p.Ala223=) n.226T>G c.*352T>G (n.*352T>G) | |
| 20 | g.48953621T= | CA2367840167 | ARFGEF2 | c.669T= (p.Ala223=) n.226T= c.*352T= (n.*352T=) | |
| 20 | g.48953622G>A | CA409320396 | ARFGEF2 | c.670G>A (p.Ala224Thr) n.227G>A c.*353G>A (n.*353G>A) | |
| 20 | g.48953622G>C | CA409320403 | ARFGEF2 | c.670G>C (p.Ala224Pro) n.227G>C c.*353G>C (n.*353G>C) | |
| 20 | g.48953622G>T | CA409320406 | ARFGEF2 | c.670G>T (p.Ala224Ser) n.227G>T c.*353G>T (n.*353G>T) | |
| 20 | g.48953623C>A | CA409320409 | ARFGEF2 | c.671C>A (p.Ala224Glu) n.228C>A c.*354C>A (n.*354C>A) | |
| 20 | g.48953623C>G | CA409320412 | ARFGEF2 | c.671C>G (p.Ala224Gly) n.228C>G c.*354C>G (n.*354C>G) | |
| 20 | g.48953623C>T | CA409320420 | ARFGEF2 | c.671C>T (p.Ala224Val) n.228C>T c.*354C>T (n.*354C>T) | |
| 20 | g.48953624A>C | CA511014032 | ARFGEF2 | c.672A>C (p.Ala224=) n.229A>C c.*355A>C (n.*355A>C) | |
| 20 | g.48953624A>G | CA511014034 | ARFGEF2 | c.672A>G (p.Ala224=) n.229A>G c.*355A>G (n.*355A>G) | gnomAD v4 |
| 20 | g.48953624A>T | CA511014033 | ARFGEF2 | c.672A>T (p.Ala224=) n.229A>T c.*355A>T (n.*355A>T) |