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 |
|---|---|---|---|---|---|
| 13 | g.32338423_32338441dup | CA2695199713 | BRCA2 | c.4068_4086dup (p.Asn1363AlafsTer4) c.3699_3717dup (p.Asn1240AlafsTer4) n.4068_4086dup | ClinVar |
| 13 | g.32338434A= | CA2082823649 | BRCA2 | c.4079A= (p.Asp1360=) c.3710A= (p.Asp1237=) n.4079A= | |
| 13 | g.32338434A>C | CA387779173 | BRCA2 | c.4079A>C (p.Asp1360Ala) c.3710A>C (p.Asp1237Ala) n.4079A>C | |
| 13 | g.32338434A>G | CA019477 | BRCA2 | c.4079A>G (p.Asp1360Gly) c.3710A>G (p.Asp1237Gly) n.4079A>G | ClinVar dbSNP |
| 13 | g.32338434A>T | CA387779175 | BRCA2 | c.4079A>T (p.Asp1360Val) c.3710A>T (p.Asp1237Val) n.4079A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338435_32338443del | CA2580614674 | BRCA2 | c.4080_4088del (p.Gln1361_Asn1363del) c.3711_3719del (p.Gln1238_Asn1240del) n.4080_4088del | ClinVar |
| 13 | g.32338435T>A | CA387779177 | BRCA2 | c.4080T>A (p.Asp1360Glu) c.3711T>A (p.Asp1237Glu) n.4080T>A | dbSNP |
| 13 | g.32338435T>C | CA483438180 | BRCA2 | c.4080T>C (p.Asp1360=) c.3711T>C (p.Asp1237=) n.4080T>C | |
| 13 | g.32338435T>G | CA387779178 | BRCA2 | c.4080T>G (p.Asp1360Glu) c.3711T>G (p.Asp1237Glu) n.4080T>G | |
| 13 | g.32338435_32338438delinsTCAG | CA2082823655 | BRCA2 | c.4080_4083delinsTCAG (p.Asp1360=) c.3711_3714delinsTCAG (p.Asp1237=) n.4080_4083delinsTCAG | |
| 13 | g.32338436C>A | CA387779180 | BRCA2 | c.4081C>A (p.Gln1361Lys) c.3712C>A (p.Gln1238Lys) n.4081C>A | |
| 13 | g.32338436C= | CA2082823680 | BRCA2 | c.4081C= (p.Gln1361=) c.3712C= (p.Gln1238=) n.4081C= | |
| 13 | g.32338436C>G | CA019486 | BRCA2 | c.4081C>G (p.Gln1361Glu) c.3712C>G (p.Gln1238Glu) n.4081C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338436C>T | CA247506459 | BRCA2 | c.4081C>T (p.Gln1361Ter) c.3712C>T (p.Gln1238Ter) n.4081C>T | ClinVar dbSNP |
| 13 | g.32338438_32338440del | CA2082823665 | BRCA2 | c.4083_4085del (p.Gln1361del) c.3714_3716del (p.Gln1238del) n.4083_4085del | dbSNP gnomAD v4 |
| 13 | g.32338437A>C | CA387779182 | BRCA2 | c.4082A>C (p.Gln1361Pro) c.3713A>C (p.Gln1238Pro) n.4082A>C | |
| 13 | g.32338437A>G | CA387779186 | BRCA2 | c.4082A>G (p.Gln1361Arg) c.3713A>G (p.Gln1238Arg) n.4082A>G | |
| 13 | g.32338437A>T | CA387779184 | BRCA2 | c.4082A>T (p.Gln1361Leu) c.3713A>T (p.Gln1238Leu) n.4082A>T | dbSNP |
| 13 | g.32338438G>A | CA16606785 | BRCA2 | c.4083G>A (p.Gln1361=) c.3714G>A (p.Gln1238=) n.4083G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338438G>C | CA387779188 | BRCA2 | c.4083G>C (p.Gln1361His) c.3714G>C (p.Gln1238His) n.4083G>C | dbSNP |
| 13 | g.32338438G= | CA2082823689 | BRCA2 | c.4083G= (p.Gln1361=) c.3714G= (p.Gln1238=) n.4083G= | |
| 13 | g.32338438G>T | CA387779189 | BRCA2 | c.4083G>T (p.Gln1361His) c.3714G>T (p.Gln1238His) n.4083G>T | dbSNP |
| 13 | g.32338439del | CA483438182 | BRCA2 | c.4084del (p.His1362ThrfsTer12) c.3715del (p.His1239ThrfsTer12) n.4084del | COSMIC |
| 13 | g.32338439C>A | CA387779191 | BRCA2 | c.4084C>A (p.His1362Asn) c.3715C>A (p.His1239Asn) n.4084C>A | |
| 13 | g.32338439C>G | CA387779193 | BRCA2 | c.4084C>G (p.His1362Asp) c.3715C>G (p.His1239Asp) n.4084C>G | |
| 13 | g.32338439C>T | CA387779194 | BRCA2 | c.4084C>T (p.His1362Tyr) c.3715C>T (p.His1239Tyr) n.4084C>T | ClinVar |
| 13 | g.32338439_32338440delinsCA | CA2082823698 | BRCA2 | c.4084_4085delinsCA (p.His1362=) c.3715_3716delinsCA (p.His1239=) n.4084_4085delinsCA | |
| 13 | g.32338440del | CA019488 | BRCA2 | c.4085del (p.His1362ProfsTer12) c.3716del (p.His1239ProfsTer12) n.4085del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338440A= | CA2082823708 | BRCA2 | c.4085A= (p.His1362=) c.3716A= (p.His1239=) n.4085A= | |
| 13 | g.32338440A>C | CA387779196 | BRCA2 | c.4085A>C (p.His1362Pro) c.3716A>C (p.His1239Pro) n.4085A>C | dbSNP |
| 13 | g.32338440A>G | CA16614300 | BRCA2 | c.4085A>G (p.His1362Arg) c.3716A>G (p.His1239Arg) n.4085A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338440A>T | CA387779199 | BRCA2 | c.4085A>T (p.His1362Leu) c.3716A>T (p.His1239Leu) n.4085A>T | ClinVar dbSNP |
| 13 | g.32338441C>A | CA387779200 | BRCA2 | c.4086C>A (p.His1362Gln) c.3717C>A (p.His1239Gln) n.4086C>A | |
| 13 | g.32338441C= | CA2082823715 | BRCA2 | c.4086C= (p.His1362=) c.3717C= (p.His1239=) n.4086C= | |
| 13 | g.32338441C>G | CA387779202 | BRCA2 | c.4086C>G (p.His1362Gln) c.3717C>G (p.His1239Gln) n.4086C>G | ClinVar dbSNP |
| 13 | g.32338441C>T | CA6940745 | BRCA2 | c.4086C>T (p.His1362=) c.3717C>T (p.His1239=) n.4086C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32338453_32338454insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT | CA2499222154 | BRCA2 | c.4098_4099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT (p.Lys1367PhefsTer65) c.3729_3730insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT (p.Lys1244PhefsTer65) n.4098_4099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT | ClinVar dbSNP |
| 13 | g.32338442A= | CA2082823725 | BRCA2 | c.4087A= (p.Asn1363=) c.3718A= (p.Asn1240=) n.4087A= | |
| 13 | g.32338442A>C | CA387779207 | BRCA2 | c.4087A>C (p.Asn1363His) c.3718A>C (p.Asn1240His) n.4087A>C | ClinVar |
| 13 | g.32338442A>G | CA387779205 | BRCA2 | c.4087A>G (p.Asn1363Asp) c.3718A>G (p.Asn1240Asp) n.4087A>G | ClinVar dbSNP |
| 13 | g.32338442A>T | CA387779204 | BRCA2 | c.4087A>T (p.Asn1363Tyr) c.3718A>T (p.Asn1240Tyr) n.4087A>T | dbSNP |
| 13 | g.32338443dup | CA1139770792 | BRCA2 | c.4088dup (p.Asn1363LysfsTer5) c.3719dup (p.Asn1240LysfsTer5) n.4088dup | |
| 13 | g.32338443A= | CA2082823732 | BRCA2 | c.4088A= (p.Asn1363=) c.3719A= (p.Asn1240=) n.4088A= | |
| 13 | g.32338443A>C | CA387779210 | BRCA2 | c.4088A>C (p.Asn1363Thr) c.3719A>C (p.Asn1240Thr) n.4088A>C | dbSNP |
| 13 | g.32338443A>G | CA387779211 | BRCA2 | c.4088A>G (p.Asn1363Ser) c.3719A>G (p.Asn1240Ser) n.4088A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338443A>T | CA387779213 | BRCA2 | c.4088A>T (p.Asn1363Ile) c.3719A>T (p.Asn1240Ile) n.4088A>T | dbSNP |
| 13 | g.32338444C>A | CA10579600 | BRCA2 | c.4089C>A (p.Asn1363Lys) c.3720C>A (p.Asn1240Lys) n.4089C>A | ClinVar dbSNP |
| 13 | g.32338444C= | CA2082823749 | BRCA2 | c.4089C= (p.Asn1363=) c.3720C= (p.Asn1240=) n.4089C= | |
| 13 | g.32338444C>G | CA387779214 | BRCA2 | c.4089C>G (p.Asn1363Lys) c.3720C>G (p.Asn1240Lys) n.4089C>G | gnomAD v4 |
| 13 | g.32338444C>T | CA019492 | BRCA2 | c.4089C>T (p.Asn1363=) c.3720C>T (p.Asn1240=) n.4089C>T | ClinVar dbSNP |