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 |
|---|---|---|---|---|---|
| 19 | g.41009370A= | CA2336258782 | CYP2B6 | c.797A= (p.Asp266=) c.821A= c.257-2928A= (n.257-2928A=) c.485-2928A= (n.485-2928A=) c.206A= (p.Asp69=) c.365-2928A= (n.365-2928A=) | |
| 19 | g.41009370A>C | CA405980784 | CYP2B6 | c.797A>C (p.Asp266Ala) c.821A>C c.257-2928A>C (n.257-2928A>C) c.485-2928A>C (n.485-2928A>C) c.206A>C (p.Asp69Ala) c.365-2928A>C (n.365-2928A>C) | dbSNP gnomAD v4 |
| 19 | g.41009370A>G | CA405980785 | CYP2B6 | c.797A>G (p.Asp266Gly) c.821A>G c.257-2928A>G (n.257-2928A>G) c.485-2928A>G (n.485-2928A>G) c.206A>G (p.Asp69Gly) c.365-2928A>G (n.365-2928A>G) | |
| 19 | g.41009370A>T | CA9455338 | CYP2B6 | c.797A>T (p.Asp266Val) c.821A>T c.257-2928A>T (n.257-2928A>T) c.485-2928A>T (n.485-2928A>T) c.206A>T (p.Asp69Val) c.365-2928A>T (n.365-2928A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41009371C>A | CA405980787 | CYP2B6 | c.798C>A (p.Asp266Glu) c.822C>A c.257-2927C>A (n.257-2927C>A) c.485-2927C>A (n.485-2927C>A) c.207C>A (p.Asp69Glu) c.365-2927C>A (n.365-2927C>A) | |
| 19 | g.41009371C= | CA2336258785 | CYP2B6 | c.798C= (p.Asp266=) c.822C= c.257-2927C= (n.257-2927C=) c.485-2927C= (n.485-2927C=) c.207C= (p.Asp69=) c.365-2927C= (n.365-2927C=) | |
| 19 | g.41009371C>G | CA405980789 | CYP2B6 | c.798C>G (p.Asp266Glu) c.822C>G c.257-2927C>G (n.257-2927C>G) c.485-2927C>G (n.485-2927C>G) c.207C>G (p.Asp69Glu) c.365-2927C>G (n.365-2927C>G) | |
| 19 | g.41009371C>T | CA507535613 | CYP2B6 | c.798C>T (p.Asp266=) c.822C>T c.257-2927C>T (n.257-2927C>T) c.485-2927C>T (n.485-2927C>T) c.207C>T (p.Asp69=) c.365-2927C>T (n.365-2927C>T) | dbSNP gnomAD v4 |
| 19 | g.41009372A>C | CA405980791 | CYP2B6 | c.799A>C (p.Thr267Pro) c.823A>C c.257-2926A>C (n.257-2926A>C) c.485-2926A>C (n.485-2926A>C) c.208A>C (p.Thr70Pro) c.365-2926A>C (n.365-2926A>C) | |
| 19 | g.41009372A>G | CA405980792 | CYP2B6 | c.799A>G (p.Thr267Ala) c.823A>G c.257-2926A>G (n.257-2926A>G) c.485-2926A>G (n.485-2926A>G) c.208A>G (p.Thr70Ala) c.365-2926A>G (n.365-2926A>G) | gnomAD v4 |
| 19 | g.41009372A>T | CA405980793 | CYP2B6 | c.799A>T (p.Thr267Ser) c.823A>T c.257-2926A>T (n.257-2926A>T) c.485-2926A>T (n.485-2926A>T) c.208A>T (p.Thr70Ser) c.365-2926A>T (n.365-2926A>T) | |
| 19 | g.41009373C>A | CA9455339 | CYP2B6 | c.800C>A (p.Thr267Asn) c.824C>A c.257-2925C>A (n.257-2925C>A) c.485-2925C>A (n.485-2925C>A) c.209C>A (p.Thr70Asn) c.365-2925C>A (n.365-2925C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41009373C= | CA2336258787 | CYP2B6 | c.800C= (p.Thr267=) c.824C= c.257-2925C= (n.257-2925C=) c.485-2925C= (n.485-2925C=) c.209C= (p.Thr70=) c.365-2925C= (n.365-2925C=) | |
| 19 | g.41009373C>G | CA405980795 | CYP2B6 | c.800C>G (p.Thr267Ser) c.824C>G c.257-2925C>G (n.257-2925C>G) c.485-2925C>G (n.485-2925C>G) c.209C>G (p.Thr70Ser) c.365-2925C>G (n.365-2925C>G) | gnomAD v4 |
| 19 | g.41009373C>T | CA405980794 | CYP2B6 | c.800C>T (p.Thr267Ile) c.824C>T c.257-2925C>T (n.257-2925C>T) c.485-2925C>T (n.485-2925C>T) c.209C>T (p.Thr70Ile) c.365-2925C>T (n.365-2925C>T) | gnomAD v4 |
| 19 | g.41009374C>A | CA507535619 | CYP2B6 | c.801C>A (p.Thr267=) c.825C>A c.257-2924C>A (n.257-2924C>A) c.485-2924C>A (n.485-2924C>A) c.210C>A (p.Thr70=) c.365-2924C>A (n.365-2924C>A) | |
| 19 | g.41009374C>G | CA507535621 | CYP2B6 | c.801C>G (p.Thr267=) c.825C>G c.257-2924C>G (n.257-2924C>G) c.485-2924C>G (n.485-2924C>G) c.210C>G (p.Thr70=) c.365-2924C>G (n.365-2924C>G) | |
| 19 | g.41009374C>T | CA507535622 | CYP2B6 | c.801C>T (p.Thr267=) c.825C>T c.257-2924C>T (n.257-2924C>T) c.485-2924C>T (n.485-2924C>T) c.210C>T (p.Thr70=) c.365-2924C>T (n.365-2924C>T) | |
| 19 | g.41009375T>A | CA405980799 | CYP2B6 | c.802T>A (p.Tyr268Asn) c.826T>A c.257-2923T>A (n.257-2923T>A) c.485-2923T>A (n.485-2923T>A) c.211T>A (p.Tyr71Asn) c.365-2923T>A (n.365-2923T>A) | |
| 19 | g.41009375T>C | CA405980804 | CYP2B6 | c.802T>C (p.Tyr268His) c.826T>C c.257-2923T>C (n.257-2923T>C) c.485-2923T>C (n.485-2923T>C) c.211T>C (p.Tyr71His) c.365-2923T>C (n.365-2923T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41009375T>G | CA405980806 | CYP2B6 | c.802T>G (p.Tyr268Asp) c.826T>G c.257-2923T>G (n.257-2923T>G) c.485-2923T>G (n.485-2923T>G) c.211T>G (p.Tyr71Asp) c.365-2923T>G (n.365-2923T>G) | |
| 19 | g.41009375T= | CA2336258792 | CYP2B6 | c.802T= (p.Tyr268=) c.826T= c.257-2923T= (n.257-2923T=) c.485-2923T= (n.485-2923T=) c.211T= (p.Tyr71=) c.365-2923T= (n.365-2923T=) | |
| 19 | g.41009376A>C | CA405980812 | CYP2B6 | c.803A>C (p.Tyr268Ser) c.827A>C c.257-2922A>C (n.257-2922A>C) c.485-2922A>C (n.485-2922A>C) c.212A>C (p.Tyr71Ser) c.365-2922A>C (n.365-2922A>C) | |
| 19 | g.41009376A>G | CA405980813 | CYP2B6 | c.803A>G (p.Tyr268Cys) c.827A>G c.257-2922A>G (n.257-2922A>G) c.485-2922A>G (n.485-2922A>G) c.212A>G (p.Tyr71Cys) c.365-2922A>G (n.365-2922A>G) | |
| 19 | g.41009376A>T | CA405980814 | CYP2B6 | c.803A>T (p.Tyr268Phe) c.827A>T c.257-2922A>T (n.257-2922A>T) c.485-2922A>T (n.485-2922A>T) c.212A>T (p.Tyr71Phe) c.365-2922A>T (n.365-2922A>T) | |
| 19 | g.41009377C>A | CA405980815 | CYP2B6 | c.804C>A (p.Tyr268Ter) c.828C>A c.257-2921C>A (n.257-2921C>A) c.485-2921C>A (n.485-2921C>A) c.213C>A (p.Tyr71Ter) c.365-2921C>A (n.365-2921C>A) | gnomAD v4 |
| 19 | g.41009377C>G | CA405980816 | CYP2B6 | c.804C>G (p.Tyr268Ter) c.828C>G c.257-2921C>G (n.257-2921C>G) c.485-2921C>G (n.485-2921C>G) c.213C>G (p.Tyr71Ter) c.365-2921C>G (n.365-2921C>G) | |
| 19 | g.41009377C>T | CA507535626 | CYP2B6 | c.804C>T (p.Tyr268=) c.828C>T c.257-2921C>T (n.257-2921C>T) c.485-2921C>T (n.485-2921C>T) c.213C>T (p.Tyr71=) c.365-2921C>T (n.365-2921C>T) | gnomAD v4 |
| 19 | g.41009378C>A | CA405980819 | CYP2B6 | c.805C>A (p.Leu269Met) c.829C>A c.257-2920C>A (n.257-2920C>A) c.485-2920C>A (n.485-2920C>A) c.214C>A (p.Leu72Met) c.365-2920C>A (n.365-2920C>A) | |
| 19 | g.41009378C= | CA2336258796 | CYP2B6 | c.805C= (p.Leu269=) c.829C= c.257-2920C= (n.257-2920C=) c.485-2920C= (n.485-2920C=) c.214C= (p.Leu72=) c.365-2920C= (n.365-2920C=) | |
| 19 | g.41009378C>G | CA405980821 | CYP2B6 | c.805C>G (p.Leu269Val) c.829C>G c.257-2920C>G (n.257-2920C>G) c.485-2920C>G (n.485-2920C>G) c.214C>G (p.Leu72Val) c.365-2920C>G (n.365-2920C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41009378C>T | CA507535631 | CYP2B6 | c.805C>T (p.Leu269=) c.829C>T c.257-2920C>T (n.257-2920C>T) c.485-2920C>T (n.485-2920C>T) c.214C>T (p.Leu72=) c.365-2920C>T (n.365-2920C>T) | |
| 19 | g.41009379T>A | CA405980822 | CYP2B6 | c.806T>A (p.Leu269Gln) c.830T>A c.257-2919T>A (n.257-2919T>A) c.485-2919T>A (n.485-2919T>A) c.215T>A (p.Leu72Gln) c.365-2919T>A (n.365-2919T>A) | |
| 19 | g.41009379T>C | CA405980826 | CYP2B6 | c.806T>C (p.Leu269Pro) c.830T>C c.257-2919T>C (n.257-2919T>C) c.485-2919T>C (n.485-2919T>C) c.215T>C (p.Leu72Pro) c.365-2919T>C (n.365-2919T>C) | |
| 19 | g.41009379T>G | CA9455340 | CYP2B6 | c.806T>G (p.Leu269Arg) c.830T>G c.257-2919T>G (n.257-2919T>G) c.485-2919T>G (n.485-2919T>G) c.215T>G (p.Leu72Arg) c.365-2919T>G (n.365-2919T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41009379T= | CA2336258799 | CYP2B6 | c.806T= (p.Leu269=) c.830T= c.257-2919T= (n.257-2919T=) c.485-2919T= (n.485-2919T=) c.215T= (p.Leu72=) c.365-2919T= (n.365-2919T=) | |
| 19 | g.41009380G>A | CA507535632 | CYP2B6 | c.807G>A (p.Leu269=) c.831G>A c.257-2918G>A (n.257-2918G>A) c.485-2918G>A (n.485-2918G>A) c.216G>A (p.Leu72=) c.365-2918G>A (n.365-2918G>A) | dbSNP |
| 19 | g.41009380G>C | CA507535633 | CYP2B6 | c.807G>C (p.Leu269=) c.831G>C c.257-2918G>C (n.257-2918G>C) c.485-2918G>C (n.485-2918G>C) c.216G>C (p.Leu72=) c.365-2918G>C (n.365-2918G>C) | |
| 19 | g.41009380G>T | CA507535634 | CYP2B6 | c.807G>T (p.Leu269=) c.831G>T c.257-2918G>T (n.257-2918G>T) c.485-2918G>T (n.485-2918G>T) c.216G>T (p.Leu72=) c.365-2918G>T (n.365-2918G>T) | |
| 19 | g.41009381C>A | CA9455341 | CYP2B6 | c.808C>A (p.Leu270Ile) c.832C>A c.257-2917C>A (n.257-2917C>A) c.485-2917C>A (n.485-2917C>A) c.217C>A (p.Leu73Ile) c.365-2917C>A (n.365-2917C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41009381C= | CA2336258804 | CYP2B6 | c.808C= (p.Leu270=) c.832C= c.257-2917C= (n.257-2917C=) c.485-2917C= (n.485-2917C=) c.217C= (p.Leu73=) c.365-2917C= (n.365-2917C=) | |
| 19 | g.41009381C>G | CA405980837 | CYP2B6 | c.808C>G (p.Leu270Val) c.832C>G c.257-2917C>G (n.257-2917C>G) c.485-2917C>G (n.485-2917C>G) c.217C>G (p.Leu73Val) c.365-2917C>G (n.365-2917C>G) | |
| 19 | g.41009381C>T | CA405980833 | CYP2B6 | c.808C>T (p.Leu270Phe) c.832C>T c.257-2917C>T (n.257-2917C>T) c.485-2917C>T (n.485-2917C>T) c.217C>T (p.Leu73Phe) c.365-2917C>T (n.365-2917C>T) | |
| 19 | g.41009382T>A | CA405980844 | CYP2B6 | c.809T>A (p.Leu270His) c.833T>A c.257-2916T>A (n.257-2916T>A) c.485-2916T>A (n.485-2916T>A) c.218T>A (p.Leu73His) c.365-2916T>A (n.365-2916T>A) | |
| 19 | g.41009382T>C | CA405980839 | CYP2B6 | c.809T>C (p.Leu270Pro) c.833T>C c.257-2916T>C (n.257-2916T>C) c.485-2916T>C (n.485-2916T>C) c.218T>C (p.Leu73Pro) c.365-2916T>C (n.365-2916T>C) | |
| 19 | g.41009382T>G | CA405980842 | CYP2B6 | c.809T>G (p.Leu270Arg) c.833T>G c.257-2916T>G (n.257-2916T>G) c.485-2916T>G (n.485-2916T>G) c.218T>G (p.Leu73Arg) c.365-2916T>G (n.365-2916T>G) | |
| 19 | g.41009383C>A | CA9455342 | CYP2B6 | c.810C>A (p.Leu270=) c.834C>A c.257-2915C>A (n.257-2915C>A) c.485-2915C>A (n.485-2915C>A) c.219C>A (p.Leu73=) c.365-2915C>A (n.365-2915C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41009383C= | CA2336258808 | CYP2B6 | c.810C= (p.Leu270=) c.834C= c.257-2915C= (n.257-2915C=) c.485-2915C= (n.485-2915C=) c.219C= (p.Leu73=) c.365-2915C= (n.365-2915C=) | |
| 19 | g.41009383C>G | CA507535641 | CYP2B6 | c.810C>G (p.Leu270=) c.834C>G c.257-2915C>G (n.257-2915C>G) c.485-2915C>G (n.485-2915C>G) c.219C>G (p.Leu73=) c.365-2915C>G (n.365-2915C>G) | |
| 19 | g.41009383C>T | CA507535644 | CYP2B6 | c.810C>T (p.Leu270=) c.834C>T c.257-2915C>T (n.257-2915C>T) c.485-2915C>T (n.485-2915C>T) c.219C>T (p.Leu73=) c.365-2915C>T (n.365-2915C>T) |