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.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
| 13 | g.32339722del | CA2695217890 | BRCA2 | c.5367del (p.Val1790Ter) c.4998del (p.Val1667Ter) n.5367del | ClinVar |
| 13 | g.32339722A= | CA2082822484 | BRCA2 | c.5367A= (p.Lys1789=) c.4998A= (p.Lys1666=) n.5367A= | |
| 13 | g.32339722A>C | CA387785123 | BRCA2 | c.5367A>C (p.Lys1789Asn) c.4998A>C (p.Lys1666Asn) n.5367A>C | |
| 13 | g.32339722A>G | CA483438644 | BRCA2 | c.5367A>G (p.Lys1789=) c.4998A>G (p.Lys1666=) n.5367A>G | |
| 13 | g.32339722A>T | CA387785127 | BRCA2 | c.5367A>T (p.Lys1789Asn) c.4998A>T (p.Lys1666Asn) n.5367A>T | dbSNP |
| 13 | g.32339723G>A | CA387785128 | BRCA2 | c.5368G>A (p.Val1790Ile) c.4999G>A (p.Val1667Ile) n.5368G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339723G>C | CA387785130 | BRCA2 | c.5368G>C (p.Val1790Leu) c.4999G>C (p.Val1667Leu) n.5368G>C | ClinVar dbSNP |
| 13 | g.32339723G= | CA2082822496 | BRCA2 | c.5368G= (p.Val1790=) c.4999G= (p.Val1667=) n.5368G= | |
| 13 | g.32339723G>T | CA387785133 | BRCA2 | c.5368G>T (p.Val1790Leu) c.4999G>T (p.Val1667Leu) n.5368G>T | |
| 13 | g.32339724T>A | CA387785139 | BRCA2 | c.5369T>A (p.Val1790Glu) c.5000T>A (p.Val1667Glu) n.5369T>A | |
| 13 | g.32339724T>C | CA387785135 | BRCA2 | c.5369T>C (p.Val1790Ala) c.5000T>C (p.Val1667Ala) n.5369T>C | |
| 13 | g.32339724T>G | CA387785137 | BRCA2 | c.5369T>G (p.Val1790Gly) c.5000T>G (p.Val1667Gly) n.5369T>G | dbSNP |
| 13 | g.32339725A= | CA2082822508 | BRCA2 | c.5370A= (p.Val1790=) c.5001A= (p.Val1667=) n.5370A= | |
| 13 | g.32339725A>C | CA483438649 | BRCA2 | c.5370A>C (p.Val1790=) c.5001A>C (p.Val1667=) n.5370A>C | ClinVar dbSNP |
| 13 | g.32339725A>G | CA483438650 | BRCA2 | c.5370A>G (p.Val1790=) c.5001A>G (p.Val1667=) n.5370A>G | |
| 13 | g.32339725A>T | CA483438651 | BRCA2 | c.5370A>T (p.Val1790=) c.5001A>T (p.Val1667=) n.5370A>T | dbSNP |
| 13 | g.32339725_32339727delinsAAT | CA2082822531 | BRCA2 | c.5370_5372delinsAAT (p.Val1790=) c.5001_5003delinsAAT (p.Val1667=) n.5370_5372delinsAAT | |
| 13 | g.32339726A= | CA2082822553 | BRCA2 | c.5371A= (p.Ile1791=) c.5002A= (p.Ile1668=) n.5371A= | |
| 13 | g.32339726A>C | CA387785142 | BRCA2 | c.5371A>C (p.Ile1791Leu) c.5002A>C (p.Ile1668Leu) n.5371A>C | |
| 13 | g.32339726A>G | CA387785145 | BRCA2 | c.5371A>G (p.Ile1791Val) c.5002A>G (p.Ile1668Val) n.5371A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339726A>T | CA387785147 | BRCA2 | c.5371A>T (p.Ile1791Leu) c.5002A>T (p.Ile1668Leu) n.5371A>T | dbSNP |
| 13 | g.32339728_32339729del | CA915948490 | BRCA2 | c.5373_5374del (p.Ser1792GlnfsTer14) c.5004_5005del (p.Ser1669GlnfsTer14) n.5373_5374del | ClinVar dbSNP |
| 13 | g.32339727T>A | CA387785150 | BRCA2 | c.5372T>A (p.Ile1791Lys) c.5003T>A (p.Ile1668Lys) n.5372T>A | dbSNP |
| 13 | g.32339727T>C | CA387785151 | BRCA2 | c.5372T>C (p.Ile1791Thr) c.5003T>C (p.Ile1668Thr) n.5372T>C | |
| 13 | g.32339727T>G | CA387785154 | BRCA2 | c.5372T>G (p.Ile1791Arg) c.5003T>G (p.Ile1668Arg) n.5372T>G | |
| 13 | g.32339728A= | CA2082822571 | BRCA2 | c.5373A= (p.Ile1791=) c.5004A= (p.Ile1668=) n.5373A= | |
| 13 | g.32339728A>C | CA483438658 | BRCA2 | c.5373A>C (p.Ile1791=) c.5004A>C (p.Ile1668=) n.5373A>C | |
| 13 | g.32339728A>G | CA16614316 | BRCA2 | c.5373A>G (p.Ile1791Met) c.5004A>G (p.Ile1668Met) n.5373A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339728A>T | CA483438659 | BRCA2 | c.5373A>T (p.Ile1791=) c.5004A>T (p.Ile1668=) n.5373A>T | dbSNP |
| 13 | g.32339729del | CA2580087359 | BRCA2 | c.5374del (p.Ser1792ProfsTer3) c.5005del (p.Ser1669ProfsTer3) n.5374del | ClinVar |
| 13 | g.32339729T>A | CA387785157 | BRCA2 | c.5374T>A (p.Ser1792Thr) c.5005T>A (p.Ser1669Thr) n.5374T>A | |
| 13 | g.32339729T>C | CA387785161 | BRCA2 | c.5374T>C (p.Ser1792Pro) c.5005T>C (p.Ser1669Pro) n.5374T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339729T>G | CA387785164 | BRCA2 | c.5374T>G (p.Ser1792Ala) c.5005T>G (p.Ser1669Ala) n.5374T>G | |
| 13 | g.32339729T= | CA2082822574 | BRCA2 | c.5374T= (p.Ser1792=) c.5005T= (p.Ser1669=) n.5374T= | |
| 13 | g.32339730C>A | CA387785166 | BRCA2 | c.5375C>A (p.Ser1792Tyr) c.5006C>A (p.Ser1669Tyr) n.5375C>A | ClinVar dbSNP |
| 13 | g.32339730C= | CA2082822582 | BRCA2 | c.5375C= (p.Ser1792=) c.5006C= (p.Ser1669=) n.5375C= | |
| 13 | g.32339730C>G | CA387785169 | BRCA2 | c.5375C>G (p.Ser1792Cys) c.5006C>G (p.Ser1669Cys) n.5375C>G | dbSNP |
| 13 | g.32339730C>T | CA387785171 | BRCA2 | c.5375C>T (p.Ser1792Phe) c.5006C>T (p.Ser1669Phe) n.5375C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32339731C>A | CA483438663 | BRCA2 | c.5376C>A (p.Ser1792=) c.5007C>A (p.Ser1669=) n.5376C>A | ClinVar |
| 13 | g.32339731C= | CA2082822608 | BRCA2 | c.5376C= (p.Ser1792=) c.5007C= (p.Ser1669=) n.5376C= | |
| 13 | g.32339731C>G | CA483438664 | BRCA2 | c.5376C>G (p.Ser1792=) c.5007C>G (p.Ser1669=) n.5376C>G | |
| 13 | g.32339731C>T | CA483438665 | BRCA2 | c.5376C>T (p.Ser1792=) c.5007C>T (p.Ser1669=) n.5376C>T | ClinVar dbSNP |
| 13 | g.32339731_32339732delinsCA | CA2082822602 | BRCA2 | c.5376_5377delinsCA (p.Ser1792=) c.5007_5008delinsCA (p.Ser1669=) n.5376_5377delinsCA | |
| 13 | g.32339731_32339732insTG | CA2082822619 | BRCA2 | c.5376_5377insTG (p.Asn1793Ter) c.5007_5008insTG (p.Asn1670Ter) n.5376_5377insTG | dbSNP |
| 13 | g.32339732A= | CA2082822635 | BRCA2 | c.5377A= (p.Asn1793=) c.5008A= (p.Asn1670=) n.5377A= | |
| 13 | g.32339732A>C | CA387785178 | BRCA2 | c.5377A>C (p.Asn1793His) c.5008A>C (p.Asn1670His) n.5377A>C | ClinVar dbSNP |
| 13 | g.32339732A>G | CA387785175 | BRCA2 | c.5377A>G (p.Asn1793Asp) c.5008A>G (p.Asn1670Asp) n.5377A>G | gnomAD v3 gnomAD v4 |
| 13 | g.32339732A>T | CA387785180 | BRCA2 | c.5377A>T (p.Asn1793Tyr) c.5008A>T (p.Asn1670Tyr) n.5377A>T | dbSNP |
| 13 | g.32339733del | CA022162 | BRCA2 | c.5378del (p.Asn1793MetfsTer2) c.5009del (p.Asn1670MetfsTer2) n.5378del | ClinVar dbSNP |