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 |
|---|---|---|---|---|---|
| 3 | g.171007171C>A | CA355490403 | SLC2A2 | c.589G>T (p.Val197Phe) c.70G>T (p.Val24Phe) c.*56G>T (n.*56G>T) n.300G>T c.232G>T (p.Val78Phe) c.544G>T (p.Val182Phe) c.370G>T (p.Val124Phe) | |
| 3 | g.171007171C= | CA1420165560 | SLC2A2 | c.589G= (p.Val197=) c.70G= (p.Val24=) c.*56G= (n.*56G=) n.300G= c.232G= (p.Val78=) c.544G= (p.Val182=) c.370G= (p.Val124=) | |
| 3 | g.171007171C>G | CA355490404 | SLC2A2 | c.589G>C (p.Val197Leu) c.70G>C (p.Val24Leu) c.*56G>C (n.*56G>C) n.300G>C c.232G>C (p.Val78Leu) c.544G>C (p.Val182Leu) c.370G>C (p.Val124Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.171007171C>T | CA020020 | SLC2A2 | c.589G>A (p.Val197Ile) c.70G>A (p.Val24Ile) c.*56G>A (n.*56G>A) n.300G>A c.232G>A (p.Val78Ile) c.544G>A (p.Val182Ile) c.370G>A (p.Val124Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.171007172G>A | CA2702636 | SLC2A2 | c.588C>T (p.Ile196=) c.69C>T (p.Ile23=) c.*55C>T (n.*55C>T) n.299C>T c.231C>T (p.Ile77=) c.543C>T (p.Ile181=) c.369C>T (p.Ile123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.171007172G>C | CA355490408 | SLC2A2 | c.588C>G (p.Ile196Met) c.69C>G (p.Ile23Met) c.*55C>G (n.*55C>G) n.299C>G c.231C>G (p.Ile77Met) c.543C>G (p.Ile181Met) c.369C>G (p.Ile123Met) | |
| 3 | g.171007172G= | CA1420165561 | SLC2A2 | c.588C= (p.Ile196=) c.69C= (p.Ile23=) c.*55C= (n.*55C=) n.299C= c.231C= (p.Ile77=) c.543C= (p.Ile181=) c.369C= (p.Ile123=) | |
| 3 | g.171007172G>T | CA436775527 | SLC2A2 | c.588C>A (p.Ile196=) c.69C>A (p.Ile23=) c.*55C>A (n.*55C>A) n.299C>A c.231C>A (p.Ile77=) c.543C>A (p.Ile181=) c.369C>A (p.Ile123=) | |
| 3 | g.171007173A= | CA1420165562 | SLC2A2 | c.587T= (p.Ile196=) c.68T= (p.Ile23=) c.*54T= (n.*54T=) n.298T= c.230T= (p.Ile77=) c.542T= (p.Ile181=) c.368T= (p.Ile123=) | |
| 3 | g.171007173A>C | CA355490410 | SLC2A2 | c.587T>G (p.Ile196Ser) c.68T>G (p.Ile23Ser) c.*54T>G (n.*54T>G) n.298T>G c.230T>G (p.Ile77Ser) c.542T>G (p.Ile181Ser) c.368T>G (p.Ile123Ser) | |
| 3 | g.171007173A>G | CA355490412 | SLC2A2 | c.587T>C (p.Ile196Thr) c.68T>C (p.Ile23Thr) c.*54T>C (n.*54T>C) n.298T>C c.230T>C (p.Ile77Thr) c.542T>C (p.Ile181Thr) c.368T>C (p.Ile123Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.171007173A>T | CA2702637 | SLC2A2 | c.587T>A (p.Ile196Asn) c.68T>A (p.Ile23Asn) c.*54T>A (n.*54T>A) n.298T>A c.230T>A (p.Ile77Asn) c.542T>A (p.Ile181Asn) c.368T>A (p.Ile123Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.171007174T>A | CA355490415 | SLC2A2 | c.586A>T (p.Ile196Phe) c.67A>T (p.Ile23Phe) c.*53A>T (n.*53A>T) n.297A>T c.229A>T (p.Ile77Phe) c.541A>T (p.Ile181Phe) c.367A>T (p.Ile123Phe) | |
| 3 | g.171007174T>C | CA355490417 | SLC2A2 | c.586A>G (p.Ile196Val) c.67A>G (p.Ile23Val) c.*53A>G (n.*53A>G) n.297A>G c.229A>G (p.Ile77Val) c.541A>G (p.Ile181Val) c.367A>G (p.Ile123Val) | gnomAD v4 |
| 3 | g.171007174T>G | CA355490419 | SLC2A2 | c.586A>C (p.Ile196Leu) c.67A>C (p.Ile23Leu) c.*53A>C (n.*53A>C) n.297A>C c.229A>C (p.Ile77Leu) c.541A>C (p.Ile181Leu) c.367A>C (p.Ile123Leu) | |
| 3 | g.171007175G>A | CA436775528 | SLC2A2 | c.585C>T (p.Ala195=) c.66C>T (p.Ala22=) c.*52C>T (n.*52C>T) n.296C>T c.228C>T (p.Ala76=) c.540C>T (p.Ala180=) c.366C>T (p.Ala122=) | |
| 3 | g.171007175G>C | CA436775530 | SLC2A2 | c.585C>G (p.Ala195=) c.66C>G (p.Ala22=) c.*52C>G (n.*52C>G) n.296C>G c.228C>G (p.Ala76=) c.540C>G (p.Ala180=) c.366C>G (p.Ala122=) | gnomAD v4 |
| 3 | g.171007175G>T | CA436775529 | SLC2A2 | c.585C>A (p.Ala195=) c.66C>A (p.Ala22=) c.*52C>A (n.*52C>A) n.296C>A c.228C>A (p.Ala76=) c.540C>A (p.Ala180=) c.366C>A (p.Ala122=) | |
| 3 | g.171007176G>A | CA355490421 | SLC2A2 | c.584C>T (p.Ala195Val) c.65C>T (p.Ala22Val) c.*51C>T (n.*51C>T) n.295C>T c.227C>T (p.Ala76Val) c.539C>T (p.Ala180Val) c.365C>T (p.Ala122Val) | gnomAD v4 |
| 3 | g.171007176G>C | CA355490425 | SLC2A2 | c.584C>G (p.Ala195Gly) c.65C>G (p.Ala22Gly) c.*51C>G (n.*51C>G) n.295C>G c.227C>G (p.Ala76Gly) c.539C>G (p.Ala180Gly) c.365C>G (p.Ala122Gly) | gnomAD v4 |
| 3 | g.171007176G>T | CA355490423 | SLC2A2 | c.584C>A (p.Ala195Asp) c.65C>A (p.Ala22Asp) c.*51C>A (n.*51C>A) n.295C>A c.227C>A (p.Ala76Asp) c.539C>A (p.Ala180Asp) c.365C>A (p.Ala122Asp) | gnomAD v4 |
| 3 | g.171007177C>A | CA355490427 | SLC2A2 | c.583G>T (p.Ala195Ser) c.64G>T (p.Ala22Ser) c.*50G>T (n.*50G>T) n.294G>T c.226G>T (p.Ala76Ser) c.538G>T (p.Ala180Ser) c.364G>T (p.Ala122Ser) | |
| 3 | g.171007177C= | CA1420165563 | SLC2A2 | c.583G= (p.Ala195=) c.64G= (p.Ala22=) c.*50G= (n.*50G=) n.294G= c.226G= (p.Ala76=) c.538G= (p.Ala180=) c.364G= (p.Ala122=) | |
| 3 | g.171007177C>G | CA355490430 | SLC2A2 | c.583G>C (p.Ala195Pro) c.64G>C (p.Ala22Pro) c.*50G>C (n.*50G>C) n.294G>C c.226G>C (p.Ala76Pro) c.538G>C (p.Ala180Pro) c.364G>C (p.Ala122Pro) | |
| 3 | g.171007177C>T | CA355490429 | SLC2A2 | c.583G>A (p.Ala195Thr) c.64G>A (p.Ala22Thr) c.*50G>A (n.*50G>A) n.294G>A c.226G>A (p.Ala76Thr) c.538G>A (p.Ala180Thr) c.364G>A (p.Ala122Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.171007178C>A | CA436775531 | SLC2A2 | c.582G>T (p.Leu194=) c.63G>T (p.Leu21=) c.*49G>T (n.*49G>T) n.293G>T c.225G>T (p.Leu75=) c.537G>T (p.Leu179=) c.363G>T (p.Leu121=) | |
| 3 | g.171007178C>G | CA436775532 | SLC2A2 | c.582G>C (p.Leu194=) c.63G>C (p.Leu21=) c.*49G>C (n.*49G>C) n.293G>C c.225G>C (p.Leu75=) c.537G>C (p.Leu179=) c.363G>C (p.Leu121=) | |
| 3 | g.171007178C>T | CA436775533 | SLC2A2 | c.582G>A (p.Leu194=) c.63G>A (p.Leu21=) c.*49G>A (n.*49G>A) n.293G>A c.225G>A (p.Leu75=) c.537G>A (p.Leu179=) c.363G>A (p.Leu121=) | gnomAD v4 |
| 3 | g.171007179A>C | CA355490431 | SLC2A2 | c.581T>G (p.Leu194Arg) c.62T>G (p.Leu21Arg) c.*48T>G (n.*48T>G) n.292T>G c.224T>G (p.Leu75Arg) c.536T>G (p.Leu179Arg) c.362T>G (p.Leu121Arg) | |
| 3 | g.171007179A>G | CA355490432 | SLC2A2 | c.581T>C (p.Leu194Pro) c.62T>C (p.Leu21Pro) c.*48T>C (n.*48T>C) n.292T>C c.224T>C (p.Leu75Pro) c.536T>C (p.Leu179Pro) c.362T>C (p.Leu121Pro) | |
| 3 | g.171007179A>T | CA355490433 | SLC2A2 | c.581T>A (p.Leu194Gln) c.62T>A (p.Leu21Gln) c.*48T>A (n.*48T>A) n.292T>A c.224T>A (p.Leu75Gln) c.536T>A (p.Leu179Gln) c.362T>A (p.Leu121Gln) | |
| 3 | g.171007180G>A | CA436775534 | SLC2A2 | c.580C>T (p.Leu194=) c.61C>T (p.Leu21=) c.*47C>T (n.*47C>T) n.291C>T c.223C>T (p.Leu75=) c.535C>T (p.Leu179=) c.361C>T (p.Leu121=) | |
| 3 | g.171007180G>C | CA2702638 | SLC2A2 | c.580C>G (p.Leu194Val) c.61C>G (p.Leu21Val) c.*47C>G (n.*47C>G) n.291C>G c.223C>G (p.Leu75Val) c.535C>G (p.Leu179Val) c.361C>G (p.Leu121Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.171007180G= | CA1420165564 | SLC2A2 | c.580C= (p.Leu194=) c.61C= (p.Leu21=) c.*47C= (n.*47C=) n.291C= c.223C= (p.Leu75=) c.535C= (p.Leu179=) c.361C= (p.Leu121=) | |
| 3 | g.171007180G>T | CA355490437 | SLC2A2 | c.580C>A (p.Leu194Met) c.61C>A (p.Leu21Met) c.*47C>A (n.*47C>A) n.291C>A c.223C>A (p.Leu75Met) c.535C>A (p.Leu179Met) c.361C>A (p.Leu121Met) | |
| 3 | g.171007181C>A | CA355490439 | SLC2A2 | c.579G>T (p.Gln193His) c.60G>T (p.Gln20His) c.*46G>T (n.*46G>T) n.290G>T c.222G>T (p.Gln74His) c.534G>T (p.Gln178His) c.360G>T (p.Gln120His) | |
| 3 | g.171007181C>G | CA355490441 | SLC2A2 | c.579G>C (p.Gln193His) c.60G>C (p.Gln20His) c.*46G>C (n.*46G>C) n.290G>C c.222G>C (p.Gln74His) c.534G>C (p.Gln178His) c.360G>C (p.Gln120His) | |
| 3 | g.171007181C>T | CA436775535 | SLC2A2 | c.579G>A (p.Gln193=) c.60G>A (p.Gln20=) c.*46G>A (n.*46G>A) n.290G>A c.222G>A (p.Gln74=) c.534G>A (p.Gln178=) c.360G>A (p.Gln120=) | |
| 3 | g.171007182T>A | CA355490443 | SLC2A2 | c.578A>T (p.Gln193Leu) c.59A>T (p.Gln20Leu) c.*45A>T (n.*45A>T) n.289A>T c.221A>T (p.Gln74Leu) c.533A>T (p.Gln178Leu) c.359A>T (p.Gln120Leu) | |
| 3 | g.171007182T>C | CA355490445 | SLC2A2 | c.578A>G (p.Gln193Arg) c.59A>G (p.Gln20Arg) c.*45A>G (n.*45A>G) n.289A>G c.221A>G (p.Gln74Arg) c.533A>G (p.Gln178Arg) c.359A>G (p.Gln120Arg) | |
| 3 | g.171007182T>G | CA355490447 | SLC2A2 | c.578A>C (p.Gln193Pro) c.59A>C (p.Gln20Pro) c.*45A>C (n.*45A>C) n.289A>C c.221A>C (p.Gln74Pro) c.533A>C (p.Gln178Pro) c.359A>C (p.Gln120Pro) | |
| 3 | g.171007183G>A | CA355490453 | SLC2A2 | c.577C>T (p.Gln193Ter) c.58C>T (p.Gln20Ter) c.*44C>T (n.*44C>T) n.288C>T c.220C>T (p.Gln74Ter) c.532C>T (p.Gln178Ter) c.358C>T (p.Gln120Ter) | |
| 3 | g.171007183G>C | CA355490452 | SLC2A2 | c.577C>G (p.Gln193Glu) c.58C>G (p.Gln20Glu) c.*44C>G (n.*44C>G) n.288C>G c.220C>G (p.Gln74Glu) c.532C>G (p.Gln178Glu) c.358C>G (p.Gln120Glu) | |
| 3 | g.171007183G>T | CA355490450 | SLC2A2 | c.577C>A (p.Gln193Lys) c.58C>A (p.Gln20Lys) c.*44C>A (n.*44C>A) n.288C>A c.220C>A (p.Gln74Lys) c.532C>A (p.Gln178Lys) c.358C>A (p.Gln120Lys) | gnomAD v4 |
| 3 | g.171007184A= | CA1420165565 | SLC2A2 | c.576T= (p.His192=) c.57T= (p.His19=) c.*43T= (n.*43T=) n.287T= c.219T= (p.His73=) c.531T= (p.His177=) c.357T= (p.His119=) | |
| 3 | g.171007184A>C | CA355490456 | SLC2A2 | c.576T>G (p.His192Gln) c.57T>G (p.His19Gln) c.*43T>G (n.*43T>G) n.287T>G c.219T>G (p.His73Gln) c.531T>G (p.His177Gln) c.357T>G (p.His119Gln) | |
| 3 | g.171007184A>G | CA2702639 | SLC2A2 | c.576T>C (p.His192=) c.57T>C (p.His19=) c.*43T>C (n.*43T>C) n.287T>C c.219T>C (p.His73=) c.531T>C (p.His177=) c.357T>C (p.His119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.171007184A>T | CA355490458 | SLC2A2 | c.576T>A (p.His192Gln) c.57T>A (p.His19Gln) c.*43T>A (n.*43T>A) n.287T>A c.219T>A (p.His73Gln) c.531T>A (p.His177Gln) c.357T>A (p.His119Gln) | |
| 3 | g.171007185T>A | CA355490462 | SLC2A2 | c.575A>T (p.His192Leu) c.56A>T (p.His19Leu) c.*42A>T (n.*42A>T) n.286A>T c.218A>T (p.His73Leu) c.530A>T (p.His177Leu) c.356A>T (p.His119Leu) | |
| 3 | g.171007185T>C | CA355490464 | SLC2A2 | c.575A>G (p.His192Arg) c.56A>G (p.His19Arg) c.*42A>G (n.*42A>G) n.286A>G c.218A>G (p.His73Arg) c.530A>G (p.His177Arg) c.356A>G (p.His119Arg) | gnomAD v4 |