WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30688382A= | CA1354880316 | TGFBR2 | c.1397-2A= (n.1397-2A=) n.281-2A= n.2993-2A= n.275-2A= c.1472-2A= (n.1472-2A=) c.1424-2A= (n.1424-2A=) c.1349-2A= (n.1349-2A=) c.1292-2A= (n.1292-2A=) | |
| 3 | g.30688382A>C | CA351809180 | TGFBR2 | c.1397-2A>C (n.1397-2A>C) n.281-2A>C n.2993-2A>C n.275-2A>C c.1472-2A>C (n.1472-2A>C) c.1424-2A>C (n.1424-2A>C) c.1349-2A>C (n.1349-2A>C) c.1292-2A>C (n.1292-2A>C) | |
| 3 | g.30688382A>G | CA020674 | TGFBR2 | c.1397-2A>G (n.1397-2A>G) n.281-2A>G n.2993-2A>G n.275-2A>G c.1472-2A>G (n.1472-2A>G) c.1424-2A>G (n.1424-2A>G) c.1349-2A>G (n.1349-2A>G) c.1292-2A>G (n.1292-2A>G) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30688382A>T | CA351809181 | TGFBR2 | c.1397-2A>T (n.1397-2A>T) n.281-2A>T n.2993-2A>T n.275-2A>T c.1472-2A>T (n.1472-2A>T) c.1424-2A>T (n.1424-2A>T) c.1349-2A>T (n.1349-2A>T) c.1292-2A>T (n.1292-2A>T) | COSMIC COSMIC |
| 3 | g.30688383G>A | CA351809182 | TGFBR2 | c.1397-1G>A (n.1397-1G>A) n.281-1G>A n.2993-1G>A n.275-1G>A c.1472-1G>A (n.1472-1G>A) c.1424-1G>A (n.1424-1G>A) c.1349-1G>A (n.1349-1G>A) c.1292-1G>A (n.1292-1G>A) | ClinVar dbSNP |
| 3 | g.30688383G>C | CA351809183 | TGFBR2 | c.1397-1G>C (n.1397-1G>C) n.281-1G>C n.2993-1G>C n.275-1G>C c.1472-1G>C (n.1472-1G>C) c.1424-1G>C (n.1424-1G>C) c.1349-1G>C (n.1349-1G>C) c.1292-1G>C (n.1292-1G>C) | dbSNP |
| 3 | g.30688383G= | CA1354880317 | TGFBR2 | c.1397-1G= (n.1397-1G=) n.281-1G= n.2993-1G= n.275-1G= c.1472-1G= (n.1472-1G=) c.1424-1G= (n.1424-1G=) c.1349-1G= (n.1349-1G=) c.1292-1G= (n.1292-1G=) | |
| 3 | g.30688383G>T | CA351809184 | TGFBR2 | c.1397-1G>T (n.1397-1G>T) n.281-1G>T n.2993-1G>T n.275-1G>T c.1472-1G>T (n.1472-1G>T) c.1424-1G>T (n.1424-1G>T) c.1349-1G>T (n.1349-1G>T) c.1292-1G>T (n.1292-1G>T) | |
| 3 | g.30688384A= | CA1354880318 | TGFBR2 | c.1397A= (p.Glu466=) n.281A= n.2993A= n.275A= c.1472A= (p.Glu491=) c.1424A= (p.Glu475=) c.1349A= (p.Glu450=) c.1292A= (p.Glu431=) | |
| 3 | g.30688384A>C | CA351809185 | TGFBR2 | c.1397A>C (p.Glu466Ala) n.281A>C n.2993A>C n.275A>C c.1472A>C (p.Glu491Ala) c.1424A>C (p.Glu475Ala) c.1349A>C (p.Glu450Ala) c.1292A>C (p.Glu431Ala) | |
| 3 | g.30688384A>G | CA351809186 | TGFBR2 | c.1397A>G (p.Glu466Gly) n.281A>G n.2993A>G n.275A>G c.1472A>G (p.Glu491Gly) c.1424A>G (p.Glu475Gly) c.1349A>G (p.Glu450Gly) c.1292A>G (p.Glu431Gly) | |
| 3 | g.30688384A>T | CA351809187 | TGFBR2 | c.1397A>T (p.Glu466Val) n.281A>T n.2993A>T n.275A>T c.1472A>T (p.Glu491Val) c.1424A>T (p.Glu475Val) c.1349A>T (p.Glu450Val) c.1292A>T (p.Glu431Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688385A>C | CA351809188 | TGFBR2 | c.1398A>C (p.Glu466Asp) n.282A>C n.2994A>C n.276A>C c.1473A>C (p.Glu491Asp) c.1425A>C (p.Glu475Asp) c.1350A>C (p.Glu450Asp) c.1293A>C (p.Glu431Asp) | |
| 3 | g.30688385A>G | CA432917792 | TGFBR2 | c.1398A>G (p.Glu466=) n.282A>G n.2994A>G n.276A>G c.1473A>G (p.Glu491=) c.1425A>G (p.Glu475=) c.1350A>G (p.Glu450=) c.1293A>G (p.Glu431=) | ClinVar gnomAD v4 |
| 3 | g.30688385A>T | CA351809189 | TGFBR2 | c.1398A>T (p.Glu466Asp) n.282A>T n.2994A>T n.276A>T c.1473A>T (p.Glu491Asp) c.1425A>T (p.Glu475Asp) c.1350A>T (p.Glu450Asp) c.1293A>T (p.Glu431Asp) | dbSNP |
| 3 | g.30688386G>A | CA351809190 | TGFBR2 | c.1399G>A (p.Val467Ile) n.283G>A n.2995G>A n.277G>A c.1474G>A (p.Val492Ile) c.1426G>A (p.Val476Ile) c.1351G>A (p.Val451Ile) c.1294G>A (p.Val432Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30688386G>C | CA351809191 | TGFBR2 | c.1399G>C (p.Val467Leu) n.283G>C n.2995G>C n.277G>C c.1474G>C (p.Val492Leu) c.1426G>C (p.Val476Leu) c.1351G>C (p.Val451Leu) c.1294G>C (p.Val432Leu) | dbSNP |
| 3 | g.30688386G>T | CA351809192 | TGFBR2 | c.1399G>T (p.Val467Leu) n.283G>T n.2995G>T n.277G>T c.1474G>T (p.Val492Leu) c.1426G>T (p.Val476Leu) c.1351G>T (p.Val451Leu) c.1294G>T (p.Val432Leu) | |
| 3 | g.30688387T>A | CA351809193 | TGFBR2 | c.1400T>A (p.Val467Glu) n.284T>A n.2996T>A n.278T>A c.1475T>A (p.Val492Glu) c.1427T>A (p.Val476Glu) c.1352T>A (p.Val451Glu) c.1295T>A (p.Val432Glu) | |
| 3 | g.30688387T>C | CA351809194 | TGFBR2 | c.1400T>C (p.Val467Ala) n.284T>C n.2996T>C n.278T>C c.1475T>C (p.Val492Ala) c.1427T>C (p.Val476Ala) c.1352T>C (p.Val451Ala) c.1295T>C (p.Val432Ala) | |
| 3 | g.30688387T>G | CA351809195 | TGFBR2 | c.1400T>G (p.Val467Gly) n.284T>G n.2996T>G n.278T>G c.1475T>G (p.Val492Gly) c.1427T>G (p.Val476Gly) c.1352T>G (p.Val451Gly) c.1295T>G (p.Val432Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30688387T= | CA1354880319 | TGFBR2 | c.1400T= (p.Val467=) n.284T= n.2996T= n.278T= c.1475T= (p.Val492=) c.1427T= (p.Val476=) c.1352T= (p.Val451=) c.1295T= (p.Val432=) | |
| 3 | g.30688388A>C | CA432917793 | TGFBR2 | c.1401A>C (p.Val467=) n.285A>C n.2997A>C n.279A>C c.1476A>C (p.Val492=) c.1428A>C (p.Val476=) c.1353A>C (p.Val451=) c.1296A>C (p.Val432=) | |
| 3 | g.30688388A>G | CA432917794 | TGFBR2 | c.1401A>G (p.Val467=) n.285A>G n.2997A>G n.279A>G c.1476A>G (p.Val492=) c.1428A>G (p.Val476=) c.1353A>G (p.Val451=) c.1296A>G (p.Val432=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30688388A>T | CA432917795 | TGFBR2 | c.1401A>T (p.Val467=) n.285A>T n.2997A>T n.279A>T c.1476A>T (p.Val492=) c.1428A>T (p.Val476=) c.1353A>T (p.Val451=) c.1296A>T (p.Val432=) | |
| 3 | g.30688389A>C | CA351809196 | TGFBR2 | c.1402A>C (p.Lys468Gln) n.286A>C n.2998A>C n.280A>C c.1477A>C (p.Lys493Gln) c.1429A>C (p.Lys477Gln) c.1354A>C (p.Lys452Gln) c.1297A>C (p.Lys433Gln) | COSMIC |
| 3 | g.30688389A>G | CA351809197 | TGFBR2 | c.1402A>G (p.Lys468Glu) n.286A>G n.2998A>G n.280A>G c.1477A>G (p.Lys493Glu) c.1429A>G (p.Lys477Glu) c.1354A>G (p.Lys452Glu) c.1297A>G (p.Lys433Glu) | |
| 3 | g.30688389A>T | CA351809198 | TGFBR2 | c.1402A>T (p.Lys468Ter) n.286A>T n.2998A>T n.280A>T c.1477A>T (p.Lys493Ter) c.1429A>T (p.Lys477Ter) c.1354A>T (p.Lys452Ter) c.1297A>T (p.Lys433Ter) | |
| 3 | g.30688390A>C | CA351809199 | TGFBR2 | c.1403A>C (p.Lys468Thr) n.287A>C n.2999A>C n.281A>C c.1478A>C (p.Lys493Thr) c.1430A>C (p.Lys477Thr) c.1355A>C (p.Lys452Thr) c.1298A>C (p.Lys433Thr) | |
| 3 | g.30688390A>G | CA351809200 | TGFBR2 | c.1403A>G (p.Lys468Arg) n.287A>G n.2999A>G n.281A>G c.1478A>G (p.Lys493Arg) c.1430A>G (p.Lys477Arg) c.1355A>G (p.Lys452Arg) c.1298A>G (p.Lys433Arg) | |
| 3 | g.30688390A>T | CA351809201 | TGFBR2 | c.1403A>T (p.Lys468Ile) n.287A>T n.2999A>T n.281A>T c.1478A>T (p.Lys493Ile) c.1430A>T (p.Lys477Ile) c.1355A>T (p.Lys452Ile) c.1298A>T (p.Lys433Ile) | |
| 3 | g.30688391A>C | CA351809202 | TGFBR2 | c.1404A>C (p.Lys468Asn) n.288A>C n.3000A>C n.282A>C c.1479A>C (p.Lys493Asn) c.1431A>C (p.Lys477Asn) c.1356A>C (p.Lys452Asn) c.1299A>C (p.Lys433Asn) | |
| 3 | g.30688391A>G | CA432917796 | TGFBR2 | c.1404A>G (p.Lys468=) n.288A>G n.3000A>G n.282A>G c.1479A>G (p.Lys493=) c.1431A>G (p.Lys477=) c.1356A>G (p.Lys452=) c.1299A>G (p.Lys433=) | dbSNP gnomAD v4 |
| 3 | g.30688391A>T | CA351809203 | TGFBR2 | c.1404A>T (p.Lys468Asn) n.288A>T n.3000A>T n.282A>T c.1479A>T (p.Lys493Asn) c.1431A>T (p.Lys477Asn) c.1356A>T (p.Lys452Asn) c.1299A>T (p.Lys433Asn) | |
| 3 | g.30688392G>A | CA351809204 | TGFBR2 | c.1405G>A (p.Asp469Asn) n.289G>A n.3001G>A n.283G>A c.1480G>A (p.Asp494Asn) c.1432G>A (p.Asp478Asn) c.1357G>A (p.Asp453Asn) c.1300G>A (p.Asp434Asn) | dbSNP |
| 3 | g.30688392G>C | CA351809205 | TGFBR2 | c.1405G>C (p.Asp469His) n.289G>C n.3001G>C n.283G>C c.1480G>C (p.Asp494His) c.1432G>C (p.Asp478His) c.1357G>C (p.Asp453His) c.1300G>C (p.Asp434His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30688392G= | CA1354880320 | TGFBR2 | c.1405G= (p.Asp469=) n.289G= n.3001G= n.283G= c.1480G= (p.Asp494=) c.1432G= (p.Asp478=) c.1357G= (p.Asp453=) c.1300G= (p.Asp434=) | |
| 3 | g.30688392G>T | CA351809206 | TGFBR2 | c.1405G>T (p.Asp469Tyr) n.289G>T n.3001G>T n.283G>T c.1480G>T (p.Asp494Tyr) c.1432G>T (p.Asp478Tyr) c.1357G>T (p.Asp453Tyr) c.1300G>T (p.Asp434Tyr) | ClinVar |
| 3 | g.30688393A= | CA1354880321 | TGFBR2 | c.1406A= (p.Asp469=) n.290A= n.3002A= n.284A= c.1481A= (p.Asp494=) c.1433A= (p.Asp478=) c.1358A= (p.Asp453=) c.1301A= (p.Asp434=) | |
| 3 | g.30688393A>C | CA351809207 | TGFBR2 | c.1406A>C (p.Asp469Ala) n.290A>C n.3002A>C n.284A>C c.1481A>C (p.Asp494Ala) c.1433A>C (p.Asp478Ala) c.1358A>C (p.Asp453Ala) c.1301A>C (p.Asp434Ala) | |
| 3 | g.30688393A>G | CA046520 | TGFBR2 | c.1406A>G (p.Asp469Gly) n.290A>G n.3002A>G n.284A>G c.1481A>G (p.Asp494Gly) c.1433A>G (p.Asp478Gly) c.1358A>G (p.Asp453Gly) c.1301A>G (p.Asp434Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688393A>T | CA046538 | TGFBR2 | c.1406A>T (p.Asp469Val) n.290A>T n.3002A>T n.284A>T c.1481A>T (p.Asp494Val) c.1433A>T (p.Asp478Val) c.1358A>T (p.Asp453Val) c.1301A>T (p.Asp434Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688394T>A | CA351809208 | TGFBR2 | c.1407T>A (p.Asp469Glu) n.291T>A n.3003T>A n.285T>A c.1482T>A (p.Asp494Glu) c.1434T>A (p.Asp478Glu) c.1359T>A (p.Asp453Glu) c.1302T>A (p.Asp434Glu) | dbSNP gnomAD v4 |
| 3 | g.30688394T>C | CA71543587 | TGFBR2 | c.1407T>C (p.Asp469=) n.291T>C n.3003T>C n.285T>C c.1482T>C (p.Asp494=) c.1434T>C (p.Asp478=) c.1359T>C (p.Asp453=) c.1302T>C (p.Asp434=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688394T>G | CA351809209 | TGFBR2 | c.1407T>G (p.Asp469Glu) n.291T>G n.3003T>G n.285T>G c.1482T>G (p.Asp494Glu) c.1434T>G (p.Asp478Glu) c.1359T>G (p.Asp453Glu) c.1302T>G (p.Asp434Glu) | |
| 3 | g.30688394T= | CA1354880322 | TGFBR2 | c.1407T= (p.Asp469=) n.291T= n.3003T= n.285T= c.1482T= (p.Asp494=) c.1434T= (p.Asp478=) c.1359T= (p.Asp453=) c.1302T= (p.Asp434=) | |
| 3 | g.30688395del | CA2588340063 | TGFBR2 | c.1408del (p.Tyr470MetfsTer18) n.292del n.3004del n.286del c.1483del (p.Tyr495MetfsTer18) c.1435del (p.Tyr479MetfsTer18) c.1360del (p.Tyr454MetfsTer18) c.1303del (p.Tyr435MetfsTer18) | |
| 3 | g.30688395T>A | CA351809210 | TGFBR2 | c.1408T>A (p.Tyr470Asn) n.292T>A n.3004T>A n.286T>A c.1483T>A (p.Tyr495Asn) c.1435T>A (p.Tyr479Asn) c.1360T>A (p.Tyr454Asn) c.1303T>A (p.Tyr435Asn) | ClinVar dbSNP |
| 3 | g.30688395T>C | CA351809211 | TGFBR2 | c.1408T>C (p.Tyr470His) n.292T>C n.3004T>C n.286T>C c.1483T>C (p.Tyr495His) c.1435T>C (p.Tyr479His) c.1360T>C (p.Tyr454His) c.1303T>C (p.Tyr435His) | dbSNP gnomAD v4 |
| 3 | g.30688395T>G | CA321611 | TGFBR2 | c.1408T>G (p.Tyr470Asp) n.292T>G n.3004T>G n.286T>G c.1483T>G (p.Tyr495Asp) c.1435T>G (p.Tyr479Asp) c.1360T>G (p.Tyr454Asp) c.1303T>G (p.Tyr435Asp) | ClinVar dbSNP COSMIC COSMIC |