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 |
|---|---|---|---|---|---|
| 6 | g.149378227G>A | CA4041383 | TAB2 | n.727G>A c.312G>A (p.Thr104=) c.-96-445G>A (n.-96-445G>A) c.90G>A (p.Thr30=) c.216G>A (p.Thr72=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.149378227G>C | CA452719769 | TAB2 | n.727G>C c.312G>C (p.Thr104=) c.-96-445G>C (n.-96-445G>C) c.90G>C (p.Thr30=) c.216G>C (p.Thr72=) | |
| 6 | g.149378227G= | CA1671914884 | TAB2 | n.727G= c.312G= (p.Thr104=) c.-96-445G= (n.-96-445G=) c.90G= (p.Thr30=) c.216G= (p.Thr72=) | |
| 6 | g.149378227G>T | CA452719771 | TAB2 | n.727G>T c.312G>T (p.Thr104=) c.-96-445G>T (n.-96-445G>T) c.90G>T (p.Thr30=) c.216G>T (p.Thr72=) | |
| 6 | g.149378228C>A | CA365993372 | TAB2 | n.728C>A c.313C>A (p.His105Asn) c.-96-444C>A (n.-96-444C>A) c.91C>A (p.His31Asn) c.217C>A (p.His73Asn) | |
| 6 | g.149378228C= | CA1671914888 | TAB2 | n.728C= c.313C= (p.His105=) c.-96-444C= (n.-96-444C=) c.91C= (p.His31=) c.217C= (p.His73=) | |
| 6 | g.149378228C>G | CA365993368 | TAB2 | n.728C>G c.313C>G (p.His105Asp) c.-96-444C>G (n.-96-444C>G) c.91C>G (p.His31Asp) c.217C>G (p.His73Asp) | |
| 6 | g.149378228C>T | CA4041384 | TAB2 | n.728C>T c.313C>T (p.His105Tyr) c.-96-444C>T (n.-96-444C>T) c.91C>T (p.His31Tyr) c.217C>T (p.His73Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.149378229A>C | CA365993375 | TAB2 | n.729A>C c.314A>C (p.His105Pro) c.-96-443A>C (n.-96-443A>C) c.92A>C (p.His31Pro) c.218A>C (p.His73Pro) | |
| 6 | g.149378229A>G | CA365993377 | TAB2 | n.729A>G c.314A>G (p.His105Arg) c.-96-443A>G (n.-96-443A>G) c.92A>G (p.His31Arg) c.218A>G (p.His73Arg) | |
| 6 | g.149378229A>T | CA365993379 | TAB2 | n.729A>T c.314A>T (p.His105Leu) c.-96-443A>T (n.-96-443A>T) c.92A>T (p.His31Leu) c.218A>T (p.His73Leu) | |
| 6 | g.149378230C>A | CA365993382 | TAB2 | n.730C>A c.315C>A (p.His105Gln) c.-96-442C>A (n.-96-442C>A) c.93C>A (p.His31Gln) c.219C>A (p.His73Gln) | |
| 6 | g.149378230C>G | CA365993384 | TAB2 | n.730C>G c.315C>G (p.His105Gln) c.-96-442C>G (n.-96-442C>G) c.93C>G (p.His31Gln) c.219C>G (p.His73Gln) | |
| 6 | g.149378230C>T | CA452719773 | TAB2 | n.730C>T c.315C>T (p.His105=) c.-96-442C>T (n.-96-442C>T) c.93C>T (p.His31=) c.219C>T (p.His73=) | |
| 6 | g.149378231A= | CA1671914892 | TAB2 | n.731A= c.316A= (p.Ser106=) c.-96-441A= (n.-96-441A=) c.94A= (p.Ser32=) c.220A= (p.Ser74=) | |
| 6 | g.149378231A>C | CA365993387 | TAB2 | n.731A>C c.316A>C (p.Ser106Arg) c.-96-441A>C (n.-96-441A>C) c.94A>C (p.Ser32Arg) c.220A>C (p.Ser74Arg) | |
| 6 | g.149378231A>G | CA365993389 | TAB2 | n.731A>G c.316A>G (p.Ser106Gly) c.-96-441A>G (n.-96-441A>G) c.94A>G (p.Ser32Gly) c.220A>G (p.Ser74Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.149378231A>T | CA365993391 | TAB2 | n.731A>T c.316A>T (p.Ser106Cys) c.-96-441A>T (n.-96-441A>T) c.94A>T (p.Ser32Cys) c.220A>T (p.Ser74Cys) | |
| 6 | g.149378232G>A | CA365993394 | TAB2 | n.732G>A c.317G>A (p.Ser106Asn) c.-96-440G>A (n.-96-440G>A) c.95G>A (p.Ser32Asn) c.221G>A (p.Ser74Asn) | |
| 6 | g.149378232G>C | CA365993396 | TAB2 | n.732G>C c.317G>C (p.Ser106Thr) c.-96-440G>C (n.-96-440G>C) c.95G>C (p.Ser32Thr) c.221G>C (p.Ser74Thr) | |
| 6 | g.149378232G>T | CA365993398 | TAB2 | n.732G>T c.317G>T (p.Ser106Ile) c.-96-440G>T (n.-96-440G>T) c.95G>T (p.Ser32Ile) c.221G>T (p.Ser74Ile) | |
| 6 | g.149378233C>A | CA365993401 | TAB2 | n.733C>A c.318C>A (p.Ser106Arg) c.-96-439C>A (n.-96-439C>A) c.96C>A (p.Ser32Arg) c.222C>A (p.Ser74Arg) | |
| 6 | g.149378233C>G | CA365993403 | TAB2 | n.733C>G c.318C>G (p.Ser106Arg) c.-96-439C>G (n.-96-439C>G) c.96C>G (p.Ser32Arg) c.222C>G (p.Ser74Arg) | |
| 6 | g.149378233C>T | CA452719774 | TAB2 | n.733C>T c.318C>T (p.Ser106=) c.-96-439C>T (n.-96-439C>T) c.96C>T (p.Ser32=) c.222C>T (p.Ser74=) | |
| 6 | g.149378234A>C | CA365993406 | TAB2 | n.734A>C c.319A>C (p.Ile107Leu) c.-96-438A>C (n.-96-438A>C) c.97A>C (p.Ile33Leu) c.223A>C (p.Ile75Leu) | |
| 6 | g.149378234A>G | CA365993410 | TAB2 | n.734A>G c.319A>G (p.Ile107Val) c.-96-438A>G (n.-96-438A>G) c.97A>G (p.Ile33Val) c.223A>G (p.Ile75Val) | gnomAD v4 |
| 6 | g.149378234A>T | CA365993408 | TAB2 | n.734A>T c.319A>T (p.Ile107Phe) c.-96-438A>T (n.-96-438A>T) c.97A>T (p.Ile33Phe) c.223A>T (p.Ile75Phe) | |
| 6 | g.149378235T>A | CA365993412 | TAB2 | n.735T>A c.320T>A (p.Ile107Asn) c.-96-437T>A (n.-96-437T>A) c.98T>A (p.Ile33Asn) c.224T>A (p.Ile75Asn) | |
| 6 | g.149378235T>C | CA365993414 | TAB2 | n.735T>C c.320T>C (p.Ile107Thr) c.-96-437T>C (n.-96-437T>C) c.98T>C (p.Ile33Thr) c.224T>C (p.Ile75Thr) | |
| 6 | g.149378235T>G | CA365993417 | TAB2 | n.735T>G c.320T>G (p.Ile107Ser) c.-96-437T>G (n.-96-437T>G) c.98T>G (p.Ile33Ser) c.224T>G (p.Ile75Ser) | |
| 6 | g.149378236T>A | CA452719775 | TAB2 | n.736T>A c.321T>A (p.Ile107=) c.-96-436T>A (n.-96-436T>A) c.99T>A (p.Ile33=) c.225T>A (p.Ile75=) | |
| 6 | g.149378236T>C | CA452719776 | TAB2 | n.736T>C c.321T>C (p.Ile107=) c.-96-436T>C (n.-96-436T>C) c.99T>C (p.Ile33=) c.225T>C (p.Ile75=) | |
| 6 | g.149378236T>G | CA365993418 | TAB2 | n.736T>G c.321T>G (p.Ile107Met) c.-96-436T>G (n.-96-436T>G) c.99T>G (p.Ile33Met) c.225T>G (p.Ile75Met) | |
| 6 | g.149378237A>C | CA365993422 | TAB2 | n.737A>C c.322A>C (p.Ser108Arg) c.-96-435A>C (n.-96-435A>C) c.100A>C (p.Ser34Arg) c.226A>C (p.Ser76Arg) | |
| 6 | g.149378237A>G | CA365993424 | TAB2 | n.737A>G c.322A>G (p.Ser108Gly) c.-96-435A>G (n.-96-435A>G) c.100A>G (p.Ser34Gly) c.226A>G (p.Ser76Gly) | dbSNP gnomAD v4 |
| 6 | g.149378237A>T | CA365993427 | TAB2 | n.737A>T c.322A>T (p.Ser108Cys) c.-96-435A>T (n.-96-435A>T) c.100A>T (p.Ser34Cys) c.226A>T (p.Ser76Cys) | |
| 6 | g.149378238G>A | CA365993430 | TAB2 | n.738G>A c.323G>A (p.Ser108Asn) c.-96-434G>A (n.-96-434G>A) c.101G>A (p.Ser34Asn) c.227G>A (p.Ser76Asn) | |
| 6 | g.149378238G>C | CA365993432 | TAB2 | n.738G>C c.323G>C (p.Ser108Thr) c.-96-434G>C (n.-96-434G>C) c.101G>C (p.Ser34Thr) c.227G>C (p.Ser76Thr) | |
| 6 | g.149378238G>T | CA365993434 | TAB2 | n.738G>T c.323G>T (p.Ser108Ile) c.-96-434G>T (n.-96-434G>T) c.101G>T (p.Ser34Ile) c.227G>T (p.Ser76Ile) | |
| 6 | g.149378239T>A | CA365993437 | TAB2 | n.739T>A c.324T>A (p.Ser108Arg) c.-96-433T>A (n.-96-433T>A) c.102T>A (p.Ser34Arg) c.228T>A (p.Ser76Arg) | |
| 6 | g.149378239T>C | CA452719778 | TAB2 | n.739T>C c.324T>C (p.Ser108=) c.-96-433T>C (n.-96-433T>C) c.102T>C (p.Ser34=) c.228T>C (p.Ser76=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.149378239T>G | CA365993439 | TAB2 | n.739T>G c.324T>G (p.Ser108Arg) c.-96-433T>G (n.-96-433T>G) c.102T>G (p.Ser34Arg) c.228T>G (p.Ser76Arg) | |
| 6 | g.149378239T= | CA1671914898 | TAB2 | n.739T= c.324T= (p.Ser108=) c.-96-433T= (n.-96-433T=) c.102T= (p.Ser34=) c.228T= (p.Ser76=) | |
| 6 | g.149378240G>A | CA365993447 | TAB2 | n.740G>A c.325G>A (p.Asp109Asn) c.-96-432G>A (n.-96-432G>A) c.103G>A (p.Asp35Asn) c.229G>A (p.Asp77Asn) | |
| 6 | g.149378240G>C | CA365993442 | TAB2 | n.740G>C c.325G>C (p.Asp109His) c.-96-432G>C (n.-96-432G>C) c.103G>C (p.Asp35His) c.229G>C (p.Asp77His) | |
| 6 | g.149378240G>T | CA365993445 | TAB2 | n.740G>T c.325G>T (p.Asp109Tyr) c.-96-432G>T (n.-96-432G>T) c.103G>T (p.Asp35Tyr) c.229G>T (p.Asp77Tyr) | |
| 6 | g.149378241A>C | CA365993450 | TAB2 | n.741A>C c.326A>C (p.Asp109Ala) c.-96-431A>C (n.-96-431A>C) c.104A>C (p.Asp35Ala) c.230A>C (p.Asp77Ala) | |
| 6 | g.149378241A>G | CA365993452 | TAB2 | n.741A>G c.326A>G (p.Asp109Gly) c.-96-431A>G (n.-96-431A>G) c.104A>G (p.Asp35Gly) c.230A>G (p.Asp77Gly) | |
| 6 | g.149378241A>T | CA365993454 | TAB2 | n.741A>T c.326A>T (p.Asp109Val) c.-96-431A>T (n.-96-431A>T) c.104A>T (p.Asp35Val) c.230A>T (p.Asp77Val) | |
| 6 | g.149378242_149378253del | CA2536950454 | TAB2 | n.742_753del c.327_338del (p.Asp109_Gln113delinsGlu) c.-96-430_-96-419del (n.-96-430_-96-419del) c.105_116del (p.Asp35_Gln39delinsGlu) c.231_242del (p.Asp77_Gln81delinsGlu) |