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 |
|---|---|---|---|---|---|
| 8 | g.27463019_27463022dup | CA580667915 | CHRNA2 | c.1421_1424dup (p.Tyr475Ter) c.1376_1379dup (p.Tyr460Ter) n.290-1268_290-1265dup c.1355_1358dup (p.Tyr453Ter) c.*823_*826dup (n.*823_*826dup) c.944_947dup (p.Tyr316Ter) c.827_830dup (p.Tyr277Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463020A= | CA1772813262 | CHRNA2 | c.1423T= (p.Tyr475=) c.1378T= (p.Tyr460=) n.290-1266T= c.1357T= (p.Tyr453=) c.*825T= (n.*825T=) c.946T= (p.Tyr316=) c.829T= (p.Tyr277=) | |
| 8 | g.27463020A>C | CA174238394 | CHRNA2 | c.1423T>G (p.Tyr475Asp) c.1378T>G (p.Tyr460Asp) n.290-1266T>G c.1357T>G (p.Tyr453Asp) c.*825T>G (n.*825T>G) c.946T>G (p.Tyr316Asp) c.829T>G (p.Tyr277Asp) | dbSNP |
| 8 | g.27463020A>G | CA370807846 | CHRNA2 | c.1423T>C (p.Tyr475His) c.1378T>C (p.Tyr460His) n.290-1266T>C c.1357T>C (p.Tyr453His) c.*825T>C (n.*825T>C) c.946T>C (p.Tyr316His) c.829T>C (p.Tyr277His) | |
| 8 | g.27463020A>T | CA370807849 | CHRNA2 | c.1423T>A (p.Tyr475Asn) c.1378T>A (p.Tyr460Asn) n.290-1266T>A c.1357T>A (p.Tyr453Asn) c.*825T>A (n.*825T>A) c.946T>A (p.Tyr316Asn) c.829T>A (p.Tyr277Asn) | |
| 8 | g.27463021G>A | CA460046633 | CHRNA2 | c.1422C>T (p.His474=) c.1377C>T (p.His459=) n.290-1267C>T c.1356C>T (p.His452=) c.*824C>T (n.*824C>T) c.945C>T (p.His315=) c.828C>T (p.His276=) | gnomAD v4 |
| 8 | g.27463021G>C | CA370807855 | CHRNA2 | c.1422C>G (p.His474Gln) c.1377C>G (p.His459Gln) n.290-1267C>G c.1356C>G (p.His452Gln) c.*824C>G (n.*824C>G) c.945C>G (p.His315Gln) c.828C>G (p.His276Gln) | |
| 8 | g.27463021G>T | CA370807852 | CHRNA2 | c.1422C>A (p.His474Gln) c.1377C>A (p.His459Gln) n.290-1267C>A c.1356C>A (p.His452Gln) c.*824C>A (n.*824C>A) c.945C>A (p.His315Gln) c.828C>A (p.His276Gln) | |
| 8 | g.27463022T>A | CA370807857 | CHRNA2 | c.1421A>T (p.His474Leu) c.1376A>T (p.His459Leu) n.290-1268A>T c.1355A>T (p.His452Leu) c.*823A>T (n.*823A>T) c.944A>T (p.His315Leu) c.827A>T (p.His276Leu) | |
| 8 | g.27463022T>C | CA370807860 | CHRNA2 | c.1421A>G (p.His474Arg) c.1376A>G (p.His459Arg) n.290-1268A>G c.1355A>G (p.His452Arg) c.*823A>G (n.*823A>G) c.944A>G (p.His315Arg) c.827A>G (p.His276Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463022T>G | CA370807861 | CHRNA2 | c.1421A>C (p.His474Pro) c.1376A>C (p.His459Pro) n.290-1268A>C c.1355A>C (p.His452Pro) c.*823A>C (n.*823A>C) c.944A>C (p.His315Pro) c.827A>C (p.His276Pro) | |
| 8 | g.27463022T= | CA1772813264 | CHRNA2 | c.1421A= (p.His474=) c.1376A= (p.His459=) n.290-1268A= c.1355A= (p.His452=) c.*823A= (n.*823A=) c.944A= (p.His315=) c.827A= (p.His276=) | |
| 8 | g.27463023G>A | CA370807862 | CHRNA2 | c.1420C>T (p.His474Tyr) c.1375C>T (p.His459Tyr) n.290-1269C>T c.1354C>T (p.His452Tyr) c.*822C>T (n.*822C>T) c.943C>T (p.His315Tyr) c.826C>T (p.His276Tyr) | gnomAD v4 |
| 8 | g.27463023G>C | CA370807863 | CHRNA2 | c.1420C>G (p.His474Asp) c.1375C>G (p.His459Asp) n.290-1269C>G c.1354C>G (p.His452Asp) c.*822C>G (n.*822C>G) c.943C>G (p.His315Asp) c.826C>G (p.His276Asp) | |
| 8 | g.27463023G= | CA1772813266 | CHRNA2 | c.1420C= (p.His474=) c.1375C= (p.His459=) n.290-1269C= c.1354C= (p.His452=) c.*822C= (n.*822C=) c.943C= (p.His315=) c.826C= (p.His276=) | |
| 8 | g.27463023G>T | CA4689464 | CHRNA2 | c.1420C>A (p.His474Asn) c.1375C>A (p.His459Asn) n.290-1269C>A c.1354C>A (p.His452Asn) c.*822C>A (n.*822C>A) c.943C>A (p.His315Asn) c.826C>A (p.His276Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463024C>A | CA460046634 | CHRNA2 | c.1419G>T (p.Val473=) c.1374G>T (p.Val458=) n.290-1270G>T c.1353G>T (p.Val451=) c.*821G>T (n.*821G>T) c.942G>T (p.Val314=) c.825G>T (p.Val275=) | dbSNP |
| 8 | g.27463024C= | CA1772813269 | CHRNA2 | c.1419G= (p.Val473=) c.1374G= (p.Val458=) n.290-1270G= c.1353G= (p.Val451=) c.*821G= (n.*821G=) c.942G= (p.Val314=) c.825G= (p.Val275=) | |
| 8 | g.27463024C>G | CA460046635 | CHRNA2 | c.1419G>C (p.Val473=) c.1374G>C (p.Val458=) n.290-1270G>C c.1353G>C (p.Val451=) c.*821G>C (n.*821G>C) c.942G>C (p.Val314=) c.825G>C (p.Val275=) | |
| 8 | g.27463024C>T | CA460046636 | CHRNA2 | c.1419G>A (p.Val473=) c.1374G>A (p.Val458=) n.290-1270G>A c.1353G>A (p.Val451=) c.*821G>A (n.*821G>A) c.942G>A (p.Val314=) c.825G>A (p.Val275=) | |
| 8 | g.27463025_27463028del | CA2686678214 | CHRNA2 | c.1416_1419del (p.Val473ThrfsTer16) c.1371_1374del (p.Val458ThrfsTer16) n.290-1273_290-1270del c.1350_1353del (p.Val451ThrfsTer16) c.*818_*821del (n.*818_*821del) c.939_942del (p.Val314ThrfsTer16) c.822_825del (p.Val275ThrfsTer16) | gnomAD v4 |
| 8 | g.27463025A= | CA1772813273 | CHRNA2 | c.1418T= (p.Val473=) c.1373T= (p.Val458=) n.290-1271T= c.1352T= (p.Val451=) c.*820T= (n.*820T=) c.941T= (p.Val314=) c.824T= (p.Val275=) | |
| 8 | g.27463025A>C | CA4689465 | CHRNA2 | c.1418T>G (p.Val473Gly) c.1373T>G (p.Val458Gly) n.290-1271T>G c.1352T>G (p.Val451Gly) c.*820T>G (n.*820T>G) c.941T>G (p.Val314Gly) c.824T>G (p.Val275Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463025A>G | CA370807868 | CHRNA2 | c.1418T>C (p.Val473Ala) c.1373T>C (p.Val458Ala) n.290-1271T>C c.1352T>C (p.Val451Ala) c.*820T>C (n.*820T>C) c.941T>C (p.Val314Ala) c.824T>C (p.Val275Ala) | |
| 8 | g.27463025A>T | CA370807866 | CHRNA2 | c.1418T>A (p.Val473Glu) c.1373T>A (p.Val458Glu) n.290-1271T>A c.1352T>A (p.Val451Glu) c.*820T>A (n.*820T>A) c.941T>A (p.Val314Glu) c.824T>A (p.Val275Glu) | |
| 8 | g.27463026C>A | CA370807871 | CHRNA2 | c.1417G>T (p.Val473Leu) c.1372G>T (p.Val458Leu) n.290-1272G>T c.1351G>T (p.Val451Leu) c.*819G>T (n.*819G>T) c.940G>T (p.Val314Leu) c.823G>T (p.Val275Leu) | |
| 8 | g.27463026C>G | CA370807873 | CHRNA2 | c.1417G>C (p.Val473Leu) c.1372G>C (p.Val458Leu) n.290-1272G>C c.1351G>C (p.Val451Leu) c.*819G>C (n.*819G>C) c.940G>C (p.Val314Leu) c.823G>C (p.Val275Leu) | |
| 8 | g.27463026C>T | CA370807875 | CHRNA2 | c.1417G>A (p.Val473Met) c.1372G>A (p.Val458Met) n.290-1272G>A c.1351G>A (p.Val451Met) c.*819G>A (n.*819G>A) c.940G>A (p.Val314Met) c.823G>A (p.Val275Met) | ClinVar COSMIC |
| 8 | g.27463027A= | CA1772813276 | CHRNA2 | c.1416T= (p.Gly472=) c.1371T= (p.Gly457=) n.290-1273T= c.1350T= (p.Gly450=) c.*818T= (n.*818T=) c.939T= (p.Gly313=) c.822T= (p.Gly274=) | |
| 8 | g.27463027A>C | CA460046637 | CHRNA2 | c.1416T>G (p.Gly472=) c.1371T>G (p.Gly457=) n.290-1273T>G c.1350T>G (p.Gly450=) c.*818T>G (n.*818T>G) c.939T>G (p.Gly313=) c.822T>G (p.Gly274=) | dbSNP |
| 8 | g.27463027A>G | CA460046638 | CHRNA2 | c.1416T>C (p.Gly472=) c.1371T>C (p.Gly457=) n.290-1273T>C c.1350T>C (p.Gly450=) c.*818T>C (n.*818T>C) c.939T>C (p.Gly313=) c.822T>C (p.Gly274=) | |
| 8 | g.27463027A>T | CA460046639 | CHRNA2 | c.1416T>A (p.Gly472=) c.1371T>A (p.Gly457=) n.290-1273T>A c.1350T>A (p.Gly450=) c.*818T>A (n.*818T>A) c.939T>A (p.Gly313=) c.822T>A (p.Gly274=) | |
| 8 | g.27463028C>A | CA370807877 | CHRNA2 | c.1415G>T (p.Gly472Val) c.1370G>T (p.Gly457Val) n.290-1274G>T c.1349G>T (p.Gly450Val) c.*817G>T (n.*817G>T) c.938G>T (p.Gly313Val) c.821G>T (p.Gly274Val) | |
| 8 | g.27463028C= | CA1772813279 | CHRNA2 | c.1415G= (p.Gly472=) c.1370G= (p.Gly457=) n.290-1274G= c.1349G= (p.Gly450=) c.*817G= (n.*817G=) c.938G= (p.Gly313=) c.821G= (p.Gly274=) | |
| 8 | g.27463028C>G | CA370807879 | CHRNA2 | c.1415G>C (p.Gly472Ala) c.1370G>C (p.Gly457Ala) n.290-1274G>C c.1349G>C (p.Gly450Ala) c.*817G>C (n.*817G>C) c.938G>C (p.Gly313Ala) c.821G>C (p.Gly274Ala) | |
| 8 | g.27463028C>T | CA370807881 | CHRNA2 | c.1415G>A (p.Gly472Asp) c.1370G>A (p.Gly457Asp) n.290-1274G>A c.1349G>A (p.Gly450Asp) c.*817G>A (n.*817G>A) c.938G>A (p.Gly313Asp) c.821G>A (p.Gly274Asp) | ClinVar dbSNP gnomAD v2 |
| 8 | g.27463029C>A | CA370807886 | CHRNA2 | c.1414G>T (p.Gly472Cys) c.1369G>T (p.Gly457Cys) n.290-1275G>T c.1348G>T (p.Gly450Cys) c.*816G>T (n.*816G>T) c.937G>T (p.Gly313Cys) c.820G>T (p.Gly274Cys) | |
| 8 | g.27463029C>G | CA370807882 | CHRNA2 | c.1414G>C (p.Gly472Arg) c.1369G>C (p.Gly457Arg) n.290-1275G>C c.1348G>C (p.Gly450Arg) c.*816G>C (n.*816G>C) c.937G>C (p.Gly313Arg) c.820G>C (p.Gly274Arg) | |
| 8 | g.27463029C>T | CA370807884 | CHRNA2 | c.1414G>A (p.Gly472Ser) c.1369G>A (p.Gly457Ser) n.290-1275G>A c.1348G>A (p.Gly450Ser) c.*816G>A (n.*816G>A) c.937G>A (p.Gly313Ser) c.820G>A (p.Gly274Ser) | |
| 8 | g.27463030T>A | CA370807889 | CHRNA2 | c.1413A>T (p.Glu471Asp) c.1368A>T (p.Glu456Asp) n.290-1276A>T c.1347A>T (p.Glu449Asp) c.*815A>T (n.*815A>T) c.936A>T (p.Glu312Asp) c.819A>T (p.Glu273Asp) | |
| 8 | g.27463030T>C | CA460046640 | CHRNA2 | c.1413A>G (p.Glu471=) c.1368A>G (p.Glu456=) n.290-1276A>G c.1347A>G (p.Glu449=) c.*815A>G (n.*815A>G) c.936A>G (p.Glu312=) c.819A>G (p.Glu273=) | gnomAD v4 |
| 8 | g.27463030T>G | CA370807890 | CHRNA2 | c.1413A>C (p.Glu471Asp) c.1368A>C (p.Glu456Asp) n.290-1276A>C c.1347A>C (p.Glu449Asp) c.*815A>C (n.*815A>C) c.936A>C (p.Glu312Asp) c.819A>C (p.Glu273Asp) | |
| 8 | g.27463031T>A | CA370807892 | CHRNA2 | c.1412A>T (p.Glu471Val) c.1367A>T (p.Glu456Val) n.290-1277A>T c.1346A>T (p.Glu449Val) c.*814A>T (n.*814A>T) c.935A>T (p.Glu312Val) c.818A>T (p.Glu273Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463031T>C | CA174238409 | CHRNA2 | c.1412A>G (p.Glu471Gly) c.1367A>G (p.Glu456Gly) n.290-1277A>G c.1346A>G (p.Glu449Gly) c.*814A>G (n.*814A>G) c.935A>G (p.Glu312Gly) c.818A>G (p.Glu273Gly) | ClinVar dbSNP gnomAD v2 |
| 8 | g.27463031T>G | CA370807897 | CHRNA2 | c.1412A>C (p.Glu471Ala) c.1367A>C (p.Glu456Ala) n.290-1277A>C c.1346A>C (p.Glu449Ala) c.*814A>C (n.*814A>C) c.935A>C (p.Glu312Ala) c.818A>C (p.Glu273Ala) | |
| 8 | g.27463031T= | CA1772813283 | CHRNA2 | c.1412A= (p.Glu471=) c.1367A= (p.Glu456=) n.290-1277A= c.1346A= (p.Glu449=) c.*814A= (n.*814A=) c.935A= (p.Glu312=) c.818A= (p.Glu273=) | |
| 8 | g.27463032C>A | CA370807899 | CHRNA2 | c.1411G>T (p.Glu471Ter) c.1366G>T (p.Glu456Ter) n.290-1278G>T c.1345G>T (p.Glu449Ter) c.*813G>T (n.*813G>T) c.934G>T (p.Glu312Ter) c.817G>T (p.Glu273Ter) | |
| 8 | g.27463032C>G | CA370807900 | CHRNA2 | c.1411G>C (p.Glu471Gln) c.1366G>C (p.Glu456Gln) n.290-1278G>C c.1345G>C (p.Glu449Gln) c.*813G>C (n.*813G>C) c.934G>C (p.Glu312Gln) c.817G>C (p.Glu273Gln) | |
| 8 | g.27463032C>T | CA370807902 | CHRNA2 | c.1411G>A (p.Glu471Lys) c.1366G>A (p.Glu456Lys) n.290-1278G>A c.1345G>A (p.Glu449Lys) c.*813G>A (n.*813G>A) c.934G>A (p.Glu312Lys) c.817G>A (p.Glu273Lys) | |
| 8 | g.27463032_27463033insG | CA645550780 | CHRNA2 | c.1410_1411insC (p.Glu471ArgfsTer13) c.1365_1366insC (p.Glu456ArgfsTer13) n.290-1279_290-1278insC c.1344_1345insC (p.Glu449ArgfsTer13) c.*812_*813insC (n.*812_*813insC) c.933_934insC (p.Glu312ArgfsTer13) c.816_817insC (p.Glu273ArgfsTer13) | COSMIC |