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 |
|---|---|---|---|---|---|
| 10 | g.98490050_98490052delinsCTT | CA1930911344 | HPSE2 | c.1465_1466+1delinsAAG c.1291_1292+1delinsAAG c.856_857+1delinsAAG c.1129_1130+1delinsAAG c.949_950+1delinsAAG c.1303_1304+1delinsAAG c.661_662+1delinsAAG n.1538_1539+1delinsAAG n.1542_1543+1delinsAAG | |
| 10 | g.98490051T>A | CA378048214 | HPSE2 | c.1466A>T (p.Asn489Ile) c.1292A>T (p.Asn431Ile) c.857A>T (p.Asn286Ile) c.1130A>T (p.Asn377Ile) c.950A>T (p.Asn317Ile) c.1466A>T (p.Lys489Met) c.1304A>T (p.Asn435Ile) c.662A>T (p.Asn221Ile) n.1539A>T n.1543A>T | |
| 10 | g.98490051T>C | CA5639700 | HPSE2 | c.1466A>G (p.Asn489Ser) c.1292A>G (p.Asn431Ser) c.857A>G (p.Asn286Ser) c.1130A>G (p.Asn377Ser) c.950A>G (p.Asn317Ser) c.1466A>G (p.Lys489Arg) c.1304A>G (p.Asn435Ser) c.662A>G (p.Asn221Ser) n.1539A>G n.1543A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.98490051T>G | CA378048215 | HPSE2 | c.1466A>C (p.Asn489Thr) c.1292A>C (p.Asn431Thr) c.857A>C (p.Asn286Thr) c.1130A>C (p.Asn377Thr) c.950A>C (p.Asn317Thr) c.1466A>C (p.Lys489Thr) c.1304A>C (p.Asn435Thr) c.662A>C (p.Asn221Thr) n.1539A>C n.1543A>C | gnomAD v4 |
| 10 | g.98490051T= | CA1930911355 | HPSE2 | c.1466A= (p.Asn489=) c.1292A= (p.Asn431=) c.857A= (p.Asn286=) c.1130A= (p.Asn377=) c.950A= (p.Asn317=) c.1466A= (p.Lys489=) c.1304A= (p.Asn435=) c.662A= (p.Asn221=) n.1539A= n.1543A= | |
| 10 | g.98490051_98490052del | CA339791 | HPSE2 | c.1465_1466del (p.Asn489ProfsTer?) c.1291_1292del (p.Asn431ProfsTer?) c.856_857del (p.Asn286ProfsTer?) c.1129_1130del (p.Asn377ProfsTer?) c.949_950del (p.Asn317ProfsTer?) c.1465_1466del (p.Lys489ValfsTer?) c.1303_1304del (p.Asn435ProfsTer?) c.661_662del (p.Asn221ProfsTer?) n.1538_1539del n.1542_1543del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.98490051_98490052dup | CA1930911353 | HPSE2 | c.1465_1466dup (p.Asn489LysfsTer?) c.1291_1292dup (p.Asn431LysfsTer?) c.856_857dup (p.Asn286LysfsTer?) c.1129_1130dup (p.Asn377LysfsTer?) c.949_950dup (p.Asn317LysfsTer?) c.1465_1466dup (p.Val491GlnfsTer4) c.1303_1304dup (p.Asn435LysfsTer?) c.661_662dup (p.Asn221LysfsTer?) n.1538_1539dup n.1542_1543dup | dbSNP |
| 10 | g.98490052T>A | CA378048218 | HPSE2 | c.1465A>T (p.Asn489Tyr) c.1291A>T (p.Asn431Tyr) c.856A>T (p.Asn286Tyr) c.1129A>T (p.Asn377Tyr) c.949A>T (p.Asn317Tyr) c.1465A>T (p.Lys489Ter) c.1303A>T (p.Asn435Tyr) c.661A>T (p.Asn221Tyr) n.1538A>T n.1542A>T | |
| 10 | g.98490052T>C | CA378048223 | HPSE2 | c.1465A>G (p.Asn489Asp) c.1291A>G (p.Asn431Asp) c.856A>G (p.Asn286Asp) c.1129A>G (p.Asn377Asp) c.949A>G (p.Asn317Asp) c.1465A>G (p.Lys489Glu) c.1303A>G (p.Asn435Asp) c.661A>G (p.Asn221Asp) n.1538A>G n.1542A>G | gnomAD v4 |
| 10 | g.98490052T>G | CA378048225 | HPSE2 | c.1465A>C (p.Asn489His) c.1291A>C (p.Asn431His) c.856A>C (p.Asn286His) c.1129A>C (p.Asn377His) c.949A>C (p.Asn317His) c.1465A>C (p.Lys489Gln) c.1303A>C (p.Asn435His) c.661A>C (p.Asn221His) n.1538A>C n.1542A>C | gnomAD v4 |
| 10 | g.98490052_98490055delinsTGTG | CA1930911359 | HPSE2 | c.1462_1465delinsCACA (p.His488=) c.1288_1291delinsCACA (p.His430=) c.853_856delinsCACA (p.His285=) c.1126_1129delinsCACA (p.His376=) c.946_949delinsCACA (p.His316=) c.1300_1303delinsCACA (p.His434=) c.658_661delinsCACA (p.His220=) n.1535_1538delinsCACA n.1539_1542delinsCACA | |
| 10 | g.98490054_98490055del | CA378048228 | HPSE2 | c.1464_1465del (p.His488GlnfsTer?) c.1290_1291del (p.His430GlnfsTer?) c.855_856del (p.His285GlnfsTer?) c.1128_1129del (p.His376GlnfsTer?) c.948_949del (p.His316GlnfsTer?) c.1302_1303del (p.His434GlnfsTer?) c.660_661del (p.His220GlnfsTer?) n.1537_1538del n.1541_1542del | |
| 10 | g.98490053G>A | CA471111302 | HPSE2 | c.1464C>T (p.His488=) c.1290C>T (p.His430=) c.855C>T (p.His285=) c.1128C>T (p.His376=) c.948C>T (p.His316=) c.1302C>T (p.His434=) c.660C>T (p.His220=) n.1537C>T n.1541C>T | dbSNP gnomAD v4 |
| 10 | g.98490053G>C | CA378048231 | HPSE2 | c.1464C>G (p.His488Gln) c.1290C>G (p.His430Gln) c.855C>G (p.His285Gln) c.1128C>G (p.His376Gln) c.948C>G (p.His316Gln) c.1302C>G (p.His434Gln) c.660C>G (p.His220Gln) n.1537C>G n.1541C>G | |
| 10 | g.98490053G= | CA1930911364 | HPSE2 | c.1464C= (p.His488=) c.1290C= (p.His430=) c.855C= (p.His285=) c.1128C= (p.His376=) c.948C= (p.His316=) c.1302C= (p.His434=) c.660C= (p.His220=) n.1537C= n.1541C= | |
| 10 | g.98490053G>T | CA378048233 | HPSE2 | c.1464C>A (p.His488Gln) c.1290C>A (p.His430Gln) c.855C>A (p.His285Gln) c.1128C>A (p.His376Gln) c.948C>A (p.His316Gln) c.1302C>A (p.His434Gln) c.660C>A (p.His220Gln) n.1537C>A n.1541C>A | |
| 10 | g.98490058_98490060del | CA931638187 | HPSE2 | c.1462_1464del (p.His488del) c.1288_1290del (p.His430del) c.853_855del (p.His285del) c.1126_1128del (p.His376del) c.946_948del (p.His316del) c.1300_1302del (p.His434del) c.658_660del (p.His220del) n.1535_1537del n.1539_1541del | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.98490054T>A | CA378048237 | HPSE2 | c.1463A>T (p.His488Leu) c.1289A>T (p.His430Leu) c.854A>T (p.His285Leu) c.1127A>T (p.His376Leu) c.947A>T (p.His316Leu) c.1301A>T (p.His434Leu) c.659A>T (p.His220Leu) n.1536A>T n.1540A>T | |
| 10 | g.98490054T>C | CA378048242 | HPSE2 | c.1463A>G (p.His488Arg) c.1289A>G (p.His430Arg) c.854A>G (p.His285Arg) c.1127A>G (p.His376Arg) c.947A>G (p.His316Arg) c.1301A>G (p.His434Arg) c.659A>G (p.His220Arg) n.1536A>G n.1540A>G | |
| 10 | g.98490054T>G | CA378048244 | HPSE2 | c.1463A>C (p.His488Pro) c.1289A>C (p.His430Pro) c.854A>C (p.His285Pro) c.1127A>C (p.His376Pro) c.947A>C (p.His316Pro) c.1301A>C (p.His434Pro) c.659A>C (p.His220Pro) n.1536A>C n.1540A>C | |
| 10 | g.98490055G>A | CA378048248 | HPSE2 | c.1462C>T (p.His488Tyr) c.1288C>T (p.His430Tyr) c.853C>T (p.His285Tyr) c.1126C>T (p.His376Tyr) c.946C>T (p.His316Tyr) c.1300C>T (p.His434Tyr) c.658C>T (p.His220Tyr) n.1535C>T n.1539C>T | gnomAD v4 |
| 10 | g.98490055G>C | CA378048254 | HPSE2 | c.1462C>G (p.His488Asp) c.1288C>G (p.His430Asp) c.853C>G (p.His285Asp) c.1126C>G (p.His376Asp) c.946C>G (p.His316Asp) c.1300C>G (p.His434Asp) c.658C>G (p.His220Asp) n.1535C>G n.1539C>G | |
| 10 | g.98490055G>T | CA378048250 | HPSE2 | c.1462C>A (p.His488Asn) c.1288C>A (p.His430Asn) c.853C>A (p.His285Asn) c.1126C>A (p.His376Asn) c.946C>A (p.His316Asn) c.1300C>A (p.His434Asn) c.658C>A (p.His220Asn) n.1535C>A n.1539C>A | |
| 10 | g.98490056G>A | CA471111312 | HPSE2 | c.1461C>T (p.His487=) c.1287C>T (p.His429=) c.852C>T (p.His284=) c.1125C>T (p.His375=) c.945C>T (p.His315=) c.1299C>T (p.His433=) c.657C>T (p.His219=) n.1534C>T n.1538C>T | gnomAD v4 |
| 10 | g.98490056G>C | CA378048257 | HPSE2 | c.1461C>G (p.His487Gln) c.1287C>G (p.His429Gln) c.852C>G (p.His284Gln) c.1125C>G (p.His375Gln) c.945C>G (p.His315Gln) c.1299C>G (p.His433Gln) c.657C>G (p.His219Gln) n.1534C>G n.1538C>G | |
| 10 | g.98490056G>T | CA378048261 | HPSE2 | c.1461C>A (p.His487Gln) c.1287C>A (p.His429Gln) c.852C>A (p.His284Gln) c.1125C>A (p.His375Gln) c.945C>A (p.His315Gln) c.1299C>A (p.His433Gln) c.657C>A (p.His219Gln) n.1534C>A n.1538C>A | |
| 10 | g.98490057T>A | CA378048265 | HPSE2 | c.1460A>T (p.His487Leu) c.1286A>T (p.His429Leu) c.851A>T (p.His284Leu) c.1124A>T (p.His375Leu) c.944A>T (p.His315Leu) c.1298A>T (p.His433Leu) c.656A>T (p.His219Leu) n.1533A>T n.1537A>T | |
| 10 | g.98490057T>C | CA378048269 | HPSE2 | c.1460A>G (p.His487Arg) c.1286A>G (p.His429Arg) c.851A>G (p.His284Arg) c.1124A>G (p.His375Arg) c.944A>G (p.His315Arg) c.1298A>G (p.His433Arg) c.656A>G (p.His219Arg) n.1533A>G n.1537A>G | dbSNP gnomAD v4 |
| 10 | g.98490057T>G | CA378048273 | HPSE2 | c.1460A>C (p.His487Pro) c.1286A>C (p.His429Pro) c.851A>C (p.His284Pro) c.1124A>C (p.His375Pro) c.944A>C (p.His315Pro) c.1298A>C (p.His433Pro) c.656A>C (p.His219Pro) n.1533A>C n.1537A>C | |
| 10 | g.98490057T= | CA1930911369 | HPSE2 | c.1460A= (p.His487=) c.1286A= (p.His429=) c.851A= (p.His284=) c.1124A= (p.His375=) c.944A= (p.His315=) c.1298A= (p.His433=) c.656A= (p.His219=) n.1533A= n.1537A= | |
| 10 | g.98490058G>A | CA378048276 | HPSE2 | c.1459C>T (p.His487Tyr) c.1285C>T (p.His429Tyr) c.850C>T (p.His284Tyr) c.1123C>T (p.His375Tyr) c.943C>T (p.His315Tyr) c.1297C>T (p.His433Tyr) c.655C>T (p.His219Tyr) n.1532C>T n.1536C>T | dbSNP gnomAD v4 |
| 10 | g.98490058G>C | CA378048279 | HPSE2 | c.1459C>G (p.His487Asp) c.1285C>G (p.His429Asp) c.850C>G (p.His284Asp) c.1123C>G (p.His375Asp) c.943C>G (p.His315Asp) c.1297C>G (p.His433Asp) c.655C>G (p.His219Asp) n.1532C>G n.1536C>G | |
| 10 | g.98490058G= | CA1930911375 | HPSE2 | c.1459C= (p.His487=) c.1285C= (p.His429=) c.850C= (p.His284=) c.1123C= (p.His375=) c.943C= (p.His315=) c.1297C= (p.His433=) c.655C= (p.His219=) n.1532C= n.1536C= | |
| 10 | g.98490058G>T | CA378048283 | HPSE2 | c.1459C>A (p.His487Asn) c.1285C>A (p.His429Asn) c.850C>A (p.His284Asn) c.1123C>A (p.His375Asn) c.943C>A (p.His315Asn) c.1297C>A (p.His433Asn) c.655C>A (p.His219Asn) n.1532C>A n.1536C>A | |
| 10 | g.98490059G>A | CA471111323 | HPSE2 | c.1458C>T (p.Asn486=) c.1284C>T (p.Asn428=) c.849C>T (p.Asn283=) c.1122C>T (p.Asn374=) c.942C>T (p.Asn314=) c.1296C>T (p.Asn432=) c.654C>T (p.Asn218=) n.1531C>T n.1535C>T | dbSNP gnomAD v4 |
| 10 | g.98490059G>C | CA378048287 | HPSE2 | c.1458C>G (p.Asn486Lys) c.1284C>G (p.Asn428Lys) c.849C>G (p.Asn283Lys) c.1122C>G (p.Asn374Lys) c.942C>G (p.Asn314Lys) c.1296C>G (p.Asn432Lys) c.654C>G (p.Asn218Lys) n.1531C>G n.1535C>G | |
| 10 | g.98490059G= | CA1930911379 | HPSE2 | c.1458C= (p.Asn486=) c.1284C= (p.Asn428=) c.849C= (p.Asn283=) c.1122C= (p.Asn374=) c.942C= (p.Asn314=) c.1296C= (p.Asn432=) c.654C= (p.Asn218=) n.1531C= n.1535C= | |
| 10 | g.98490059G>T | CA378048290 | HPSE2 | c.1458C>A (p.Asn486Lys) c.1284C>A (p.Asn428Lys) c.849C>A (p.Asn283Lys) c.1122C>A (p.Asn374Lys) c.942C>A (p.Asn314Lys) c.1296C>A (p.Asn432Lys) c.654C>A (p.Asn218Lys) n.1531C>A n.1535C>A | |
| 10 | g.98490060T>A | CA378048301 | HPSE2 | c.1457A>T (p.Asn486Ile) c.1283A>T (p.Asn428Ile) c.848A>T (p.Asn283Ile) c.1121A>T (p.Asn374Ile) c.941A>T (p.Asn314Ile) c.1295A>T (p.Asn432Ile) c.653A>T (p.Asn218Ile) n.1530A>T n.1534A>T | |
| 10 | g.98490060T>C | CA378048297 | HPSE2 | c.1457A>G (p.Asn486Ser) c.1283A>G (p.Asn428Ser) c.848A>G (p.Asn283Ser) c.1121A>G (p.Asn374Ser) c.941A>G (p.Asn314Ser) c.1295A>G (p.Asn432Ser) c.653A>G (p.Asn218Ser) n.1530A>G n.1534A>G | |
| 10 | g.98490060T>G | CA378048293 | HPSE2 | c.1457A>C (p.Asn486Thr) c.1283A>C (p.Asn428Thr) c.848A>C (p.Asn283Thr) c.1121A>C (p.Asn374Thr) c.941A>C (p.Asn314Thr) c.1295A>C (p.Asn432Thr) c.653A>C (p.Asn218Thr) n.1530A>C n.1534A>C | |
| 10 | g.98490061T>A | CA378048303 | HPSE2 | c.1456A>T (p.Asn486Tyr) c.1282A>T (p.Asn428Tyr) c.847A>T (p.Asn283Tyr) c.1120A>T (p.Asn374Tyr) c.940A>T (p.Asn314Tyr) c.1294A>T (p.Asn432Tyr) c.652A>T (p.Asn218Tyr) n.1529A>T n.1533A>T | |
| 10 | g.98490061T>C | CA5639701 | HPSE2 | c.1456A>G (p.Asn486Asp) c.1282A>G (p.Asn428Asp) c.847A>G (p.Asn283Asp) c.1120A>G (p.Asn374Asp) c.940A>G (p.Asn314Asp) c.1294A>G (p.Asn432Asp) c.652A>G (p.Asn218Asp) n.1529A>G n.1533A>G | dbSNP ExAC gnomAD v2 |
| 10 | g.98490061T>G | CA378048308 | HPSE2 | c.1456A>C (p.Asn486His) c.1282A>C (p.Asn428His) c.847A>C (p.Asn283His) c.1120A>C (p.Asn374His) c.940A>C (p.Asn314His) c.1294A>C (p.Asn432His) c.652A>C (p.Asn218His) n.1529A>C n.1533A>C | |
| 10 | g.98490061T= | CA1930911384 | HPSE2 | c.1456A= (p.Asn486=) c.1282A= (p.Asn428=) c.847A= (p.Asn283=) c.1120A= (p.Asn374=) c.940A= (p.Asn314=) c.1294A= (p.Asn432=) c.652A= (p.Asn218=) n.1529A= n.1533A= | |
| 10 | g.98490062T>A | CA471111333 | HPSE2 | c.1455A>T (p.Thr485=) c.1281A>T (p.Thr427=) c.846A>T (p.Thr282=) c.1119A>T (p.Thr373=) c.939A>T (p.Thr313=) c.1293A>T (p.Thr431=) c.651A>T (p.Thr217=) n.1528A>T n.1532A>T | COSMIC COSMIC |
| 10 | g.98490062T>C | CA471111334 | HPSE2 | c.1455A>G (p.Thr485=) c.1281A>G (p.Thr427=) c.846A>G (p.Thr282=) c.1119A>G (p.Thr373=) c.939A>G (p.Thr313=) c.1293A>G (p.Thr431=) c.651A>G (p.Thr217=) n.1528A>G n.1532A>G | |
| 10 | g.98490062T>G | CA471111335 | HPSE2 | c.1455A>C (p.Thr485=) c.1281A>C (p.Thr427=) c.846A>C (p.Thr282=) c.1119A>C (p.Thr373=) c.939A>C (p.Thr313=) c.1293A>C (p.Thr431=) c.651A>C (p.Thr217=) n.1528A>C n.1532A>C | |
| 10 | g.98490063G>A | CA378048315 | HPSE2 | c.1454C>T (p.Thr485Ile) c.1280C>T (p.Thr427Ile) c.845C>T (p.Thr282Ile) c.1118C>T (p.Thr373Ile) c.938C>T (p.Thr313Ile) c.1292C>T (p.Thr431Ile) c.650C>T (p.Thr217Ile) n.1527C>T n.1531C>T | |
| 10 | g.98490063G>C | CA378048316 | HPSE2 | c.1454C>G (p.Thr485Arg) c.1280C>G (p.Thr427Arg) c.845C>G (p.Thr282Arg) c.1118C>G (p.Thr373Arg) c.938C>G (p.Thr313Arg) c.1292C>G (p.Thr431Arg) c.650C>G (p.Thr217Arg) n.1527C>G n.1531C>G |