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 |
|---|---|---|---|---|---|
| 21 | g.44894992A= | CA249753 | ITGB2 | c.1134T= (p.His378=) c.1062T= (p.His354=) c.891T= (p.His297=) n.1205T= c.*889T= (n.*889T=) c.855T= (p.His285=) | |
| 21 | g.44894992A>C | CA410486242 | ITGB2 | c.1134T>G (p.His378Gln) c.1062T>G (p.His354Gln) c.891T>G (p.His297Gln) n.1205T>G c.*889T>G (n.*889T>G) c.855T>G (p.His285Gln) | dbSNP |
| 21 | g.44894992A>G | CA2391876661 | ITGB2 | c.1134T>C (p.His378=) c.1062T>C (p.His354=) c.891T>C (p.His297=) n.1205T>C c.*889T>C (n.*889T>C) c.855T>C (p.His285=) | dbSNP |
| 21 | g.44894992A>T | CA321899204 | ITGB2 | c.1134T>A (p.His378Gln) c.1062T>A (p.His354Gln) c.891T>A (p.His297Gln) n.1205T>A c.*889T>A (n.*889T>A) c.855T>A (p.His285Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44894993T>A | CA410486243 | ITGB2 | c.1133A>T (p.His378Leu) c.1061A>T (p.His354Leu) c.890A>T (p.His297Leu) n.1204A>T c.*888A>T (n.*888A>T) c.854A>T (p.His285Leu) | |
| 21 | g.44894993T>C | CA410486245 | ITGB2 | c.1133A>G (p.His378Arg) c.1061A>G (p.His354Arg) c.890A>G (p.His297Arg) n.1204A>G c.*888A>G (n.*888A>G) c.854A>G (p.His285Arg) | |
| 21 | g.44894993T>G | CA410486244 | ITGB2 | c.1133A>C (p.His378Pro) c.1061A>C (p.His354Pro) c.890A>C (p.His297Pro) n.1204A>C c.*888A>C (n.*888A>C) c.854A>C (p.His285Pro) | |
| 21 | g.44894994G>A | CA321899210 | ITGB2 | c.1132C>T (p.His378Tyr) c.1060C>T (p.His354Tyr) c.889C>T (p.His297Tyr) n.1203C>T c.*887C>T (n.*887C>T) c.853C>T (p.His285Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44894994G>C | CA410486247 | ITGB2 | c.1132C>G (p.His378Asp) c.1060C>G (p.His354Asp) c.889C>G (p.His297Asp) n.1203C>G c.*887C>G (n.*887C>G) c.853C>G (p.His285Asp) | |
| 21 | g.44894994G= | CA2391876662 | ITGB2 | c.1132C= (p.His378=) c.1060C= (p.His354=) c.889C= (p.His297=) n.1203C= c.*887C= (n.*887C=) c.853C= (p.His285=) | |
| 21 | g.44894994G>T | CA410486246 | ITGB2 | c.1132C>A (p.His378Asn) c.1060C>A (p.His354Asn) c.889C>A (p.His297Asn) n.1203C>A c.*887C>A (n.*887C>A) c.853C>A (p.His285Asn) | |
| 21 | g.44894995G>A | CA512551608 | ITGB2 | c.1131C>T (p.Val377=) c.1059C>T (p.Val353=) c.888C>T (p.Val296=) n.1202C>T c.*886C>T (n.*886C>T) c.852C>T (p.Val284=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44894995G>C | CA512551609 | ITGB2 | c.1131C>G (p.Val377=) c.1059C>G (p.Val353=) c.888C>G (p.Val296=) n.1202C>G c.*886C>G (n.*886C>G) c.852C>G (p.Val284=) | |
| 21 | g.44894995G= | CA2391876663 | ITGB2 | c.1131C= (p.Val377=) c.1059C= (p.Val353=) c.888C= (p.Val296=) n.1202C= c.*886C= (n.*886C=) c.852C= (p.Val284=) | |
| 21 | g.44894995G>T | CA512551610 | ITGB2 | c.1131C>A (p.Val377=) c.1059C>A (p.Val353=) c.888C>A (p.Val296=) n.1202C>A c.*886C>A (n.*886C>A) c.852C>A (p.Val284=) | |
| 21 | g.44894995_44894997delinsACATTAATTAGAGGA | CA2695230452 | ITGB2 | c.1129_1131delinsTCCTCTAATTAATGT (p.Val377SerfsTer4) c.1057_1059delinsTCCTCTAATTAATGT (p.Val353SerfsTer4) c.886_888delinsTCCTCTAATTAATGT (p.Val296SerfsTer4) n.1200_1202delinsTCCTCTAATTAATGT c.*884_*886delinsTCCTCTAATTAATGT (n.*884_*886delinsTCCTCTAATTAATGT) c.850_852delinsTCCTCTAATTAATGT (p.Val284SerfsTer4) | |
| 21 | g.44894996A>C | CA410486248 | ITGB2 | c.1130T>G (p.Val377Gly) c.1058T>G (p.Val353Gly) c.887T>G (p.Val296Gly) n.1201T>G c.*885T>G (n.*885T>G) c.851T>G (p.Val284Gly) | |
| 21 | g.44894996A>G | CA410486249 | ITGB2 | c.1130T>C (p.Val377Ala) c.1058T>C (p.Val353Ala) c.887T>C (p.Val296Ala) n.1201T>C c.*885T>C (n.*885T>C) c.851T>C (p.Val284Ala) | |
| 21 | g.44894996A>T | CA410486250 | ITGB2 | c.1130T>A (p.Val377Asp) c.1058T>A (p.Val353Asp) c.887T>A (p.Val296Asp) n.1201T>A c.*885T>A (n.*885T>A) c.851T>A (p.Val284Asp) | |
| 21 | g.44894997C>A | CA410486251 | ITGB2 | c.1129G>T (p.Val377Phe) c.1057G>T (p.Val353Phe) c.886G>T (p.Val296Phe) n.1200G>T c.*884G>T (n.*884G>T) c.850G>T (p.Val284Phe) | dbSNP |
| 21 | g.44894997C>G | CA410486252 | ITGB2 | c.1129G>C (p.Val377Leu) c.1057G>C (p.Val353Leu) c.886G>C (p.Val296Leu) n.1200G>C c.*884G>C (n.*884G>C) c.850G>C (p.Val284Leu) | |
| 21 | g.44894997C>T | CA410486253 | ITGB2 | c.1129G>A (p.Val377Ile) c.1057G>A (p.Val353Ile) c.886G>A (p.Val296Ile) n.1200G>A c.*884G>A (n.*884G>A) c.850G>A (p.Val284Ile) | |
| 21 | g.44894998del | CA2573157713 | ITGB2 | c.1129del (p.Val377SerfsTer26) c.1057del (p.Val353SerfsTer26) c.886del (p.Val296SerfsTer26) n.1200del c.*884del (n.*884del) c.850del (p.Val284SerfsTer26) | ClinVar dbSNP |
| 21 | g.44894998C>A | CA512551611 | ITGB2 | c.1128G>T (p.Val376=) c.1056G>T (p.Val352=) c.885G>T (p.Val295=) n.1199G>T c.*883G>T (n.*883G>T) c.849G>T (p.Val283=) | |
| 21 | g.44894998C>G | CA512551612 | ITGB2 | c.1128G>C (p.Val376=) c.1056G>C (p.Val352=) c.885G>C (p.Val295=) n.1199G>C c.*883G>C (n.*883G>C) c.849G>C (p.Val283=) | |
| 21 | g.44894998C>T | CA512551613 | ITGB2 | c.1128G>A (p.Val376=) c.1056G>A (p.Val352=) c.885G>A (p.Val295=) n.1199G>A c.*883G>A (n.*883G>A) c.849G>A (p.Val283=) | |
| 21 | g.44894999A>C | CA410486256 | ITGB2 | c.1127T>G (p.Val376Gly) c.1055T>G (p.Val352Gly) c.884T>G (p.Val295Gly) n.1198T>G c.*882T>G (n.*882T>G) c.848T>G (p.Val283Gly) | |
| 21 | g.44894999A>G | CA410486254 | ITGB2 | c.1127T>C (p.Val376Ala) c.1055T>C (p.Val352Ala) c.884T>C (p.Val295Ala) n.1198T>C c.*882T>C (n.*882T>C) c.848T>C (p.Val283Ala) | |
| 21 | g.44894999A>T | CA410486255 | ITGB2 | c.1127T>A (p.Val376Glu) c.1055T>A (p.Val352Glu) c.884T>A (p.Val295Glu) n.1198T>A c.*882T>A (n.*882T>A) c.848T>A (p.Val283Glu) | |
| 21 | g.44895000C>A | CA410486257 | ITGB2 | c.1126G>T (p.Val376Leu) c.1054G>T (p.Val352Leu) c.883G>T (p.Val295Leu) n.1197G>T c.*881G>T (n.*881G>T) c.847G>T (p.Val283Leu) | |
| 21 | g.44895000C>G | CA410486258 | ITGB2 | c.1126G>C (p.Val376Leu) c.1054G>C (p.Val352Leu) c.883G>C (p.Val295Leu) n.1197G>C c.*881G>C (n.*881G>C) c.847G>C (p.Val283Leu) | |
| 21 | g.44895000C>T | CA410486259 | ITGB2 | c.1126G>A (p.Val376Met) c.1054G>A (p.Val352Met) c.883G>A (p.Val295Met) n.1197G>A c.*881G>A (n.*881G>A) c.847G>A (p.Val283Met) | gnomAD v4 |
| 21 | g.44895001A>C | CA410486260 | ITGB2 | c.1125T>G (p.Asn375Lys) c.1053T>G (p.Asn351Lys) c.882T>G (p.Asn294Lys) n.1196T>G c.*880T>G (n.*880T>G) c.846T>G (p.Asn282Lys) | |
| 21 | g.44895001A>G | CA512551614 | ITGB2 | c.1125T>C (p.Asn375=) c.1053T>C (p.Asn351=) c.882T>C (p.Asn294=) n.1196T>C c.*880T>C (n.*880T>C) c.846T>C (p.Asn282=) | gnomAD v4 |
| 21 | g.44895001A>T | CA410486261 | ITGB2 | c.1125T>A (p.Asn375Lys) c.1053T>A (p.Asn351Lys) c.882T>A (p.Asn294Lys) n.1196T>A c.*880T>A (n.*880T>A) c.846T>A (p.Asn282Lys) | |
| 21 | g.44895002T>A | CA410486263 | ITGB2 | c.1124A>T (p.Asn375Ile) c.1052A>T (p.Asn351Ile) c.881A>T (p.Asn294Ile) n.1195A>T c.*879A>T (n.*879A>T) c.845A>T (p.Asn282Ile) | |
| 21 | g.44895002T>C | CA120459 | ITGB2 | c.1124A>G (p.Asn375Ser) c.1052A>G (p.Asn351Ser) c.881A>G (p.Asn294Ser) n.1195A>G c.*879A>G (n.*879A>G) c.845A>G (p.Asn282Ser) | ClinVar dbSNP |
| 21 | g.44895002T>G | CA410486262 | ITGB2 | c.1124A>C (p.Asn375Thr) c.1052A>C (p.Asn351Thr) c.881A>C (p.Asn294Thr) n.1195A>C c.*879A>C (n.*879A>C) c.845A>C (p.Asn282Thr) | |
| 21 | g.44895002T= | CA2391876664 | ITGB2 | c.1124A= (p.Asn375=) c.1052A= (p.Asn351=) c.881A= (p.Asn294=) n.1195A= c.*879A= (n.*879A=) c.845A= (p.Asn282=) | |
| 21 | g.44895003T>A | CA410486264 | ITGB2 | c.1123A>T (p.Asn375Tyr) c.1051A>T (p.Asn351Tyr) c.880A>T (p.Asn294Tyr) n.1194A>T c.*878A>T (n.*878A>T) c.844A>T (p.Asn282Tyr) | |
| 21 | g.44895003T>C | CA410486265 | ITGB2 | c.1123A>G (p.Asn375Asp) c.1051A>G (p.Asn351Asp) c.880A>G (p.Asn294Asp) n.1194A>G c.*878A>G (n.*878A>G) c.844A>G (p.Asn282Asp) | gnomAD v4 |
| 21 | g.44895003T>G | CA410486266 | ITGB2 | c.1123A>C (p.Asn375His) c.1051A>C (p.Asn351His) c.880A>C (p.Asn294His) n.1194A>C c.*878A>C (n.*878A>C) c.844A>C (p.Asn282His) | |
| 21 | g.44895004G>A | CA512551615 | ITGB2 | c.1122C>T (p.Ser374=) c.1050C>T (p.Ser350=) c.879C>T (p.Ser293=) n.1193C>T c.*877C>T (n.*877C>T) c.843C>T (p.Ser281=) | gnomAD v4 |
| 21 | g.44895004G>C | CA410486267 | ITGB2 | c.1122C>G (p.Ser374Arg) c.1050C>G (p.Ser350Arg) c.879C>G (p.Ser293Arg) n.1193C>G c.*877C>G (n.*877C>G) c.843C>G (p.Ser281Arg) | |
| 21 | g.44895004G>T | CA410486268 | ITGB2 | c.1122C>A (p.Ser374Arg) c.1050C>A (p.Ser350Arg) c.879C>A (p.Ser293Arg) n.1193C>A c.*877C>A (n.*877C>A) c.843C>A (p.Ser281Arg) | gnomAD v4 |
| 21 | g.44895005C>A | CA410486269 | ITGB2 | c.1121G>T (p.Ser374Ile) c.1049G>T (p.Ser350Ile) c.878G>T (p.Ser293Ile) n.1192G>T c.*876G>T (n.*876G>T) c.842G>T (p.Ser281Ile) | |
| 21 | g.44895005C>G | CA410486270 | ITGB2 | c.1121G>C (p.Ser374Thr) c.1049G>C (p.Ser350Thr) c.878G>C (p.Ser293Thr) n.1192G>C c.*876G>C (n.*876G>C) c.842G>C (p.Ser281Thr) | |
| 21 | g.44895005C>T | CA410486271 | ITGB2 | c.1121G>A (p.Ser374Asn) c.1049G>A (p.Ser350Asn) c.878G>A (p.Ser293Asn) n.1192G>A c.*876G>A (n.*876G>A) c.842G>A (p.Ser281Asn) | |
| 21 | g.44895006T>A | CA410486272 | ITGB2 | c.1120A>T (p.Ser374Cys) c.1048A>T (p.Ser350Cys) c.877A>T (p.Ser293Cys) n.1191A>T c.*875A>T (n.*875A>T) c.841A>T (p.Ser281Cys) | |
| 21 | g.44895006T>C | CA410486273 | ITGB2 | c.1120A>G (p.Ser374Gly) c.1048A>G (p.Ser350Gly) c.877A>G (p.Ser293Gly) n.1191A>G c.*875A>G (n.*875A>G) c.841A>G (p.Ser281Gly) |