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.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
| 13 | g.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
| 13 | g.32337019T>A | CA387773356 | BRCA2 | c.2664T>A (p.Asn888Lys) c.2295T>A (p.Asn765Lys) n.2664T>A | |
| 13 | g.32337019T>C | CA483437087 | BRCA2 | c.2664T>C (p.Asn888=) c.2295T>C (p.Asn765=) n.2664T>C | ClinVar dbSNP |
| 13 | g.32337019T>G | CA387773358 | BRCA2 | c.2664T>G (p.Asn888Lys) c.2295T>G (p.Asn765Lys) n.2664T>G | |
| 13 | g.32337020A= | CA2082810384 | BRCA2 | c.2665A= (p.Asn889=) c.2296A= (p.Asn766=) n.2665A= | |
| 13 | g.32337020A>C | CA387773359 | BRCA2 | c.2665A>C (p.Asn889His) c.2296A>C (p.Asn766His) n.2665A>C | |
| 13 | g.32337020A>G | CA16619675 | BRCA2 | c.2665A>G (p.Asn889Asp) c.2296A>G (p.Asn766Asp) n.2665A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337020A>T | CA387773361 | BRCA2 | c.2665A>T (p.Asn889Tyr) c.2296A>T (p.Asn766Tyr) n.2665A>T | dbSNP |
| 13 | g.32337021del | CA2695218013 | BRCA2 | c.2666del (p.Asn889IlefsTer6) c.2297del (p.Asn766IlefsTer6) n.2666del | ClinVar |
| 13 | g.32337021A= | CA2082810387 | BRCA2 | c.2666A= (p.Asn889=) c.2297A= (p.Asn766=) n.2666A= | |
| 13 | g.32337021A>C | CA387773362 | BRCA2 | c.2666A>C (p.Asn889Thr) c.2297A>C (p.Asn766Thr) n.2666A>C | |
| 13 | g.32337021A>G | CA387773363 | BRCA2 | c.2666A>G (p.Asn889Ser) c.2297A>G (p.Asn766Ser) n.2666A>G | ClinVar dbSNP |
| 13 | g.32337021A>T | CA387773365 | BRCA2 | c.2666A>T (p.Asn889Ile) c.2297A>T (p.Asn766Ile) n.2666A>T | |
| 13 | g.32337021_32337022delinsAT | CA2082810390 | BRCA2 | c.2666_2667delinsAT (p.Asn889=) c.2297_2298delinsAT (p.Asn766=) n.2666_2667delinsAT | |
| 13 | g.32337021_32337022insC | CA2739277503 | BRCA2 | c.2666_2667insC (p.Val891CysfsTer6) c.2297_2298insC (p.Val768CysfsTer6) n.2666_2667insC | ClinVar |
| 13 | g.32337022T>A | CA387773367 | BRCA2 | c.2667T>A (p.Asn889Lys) c.2298T>A (p.Asn766Lys) n.2667T>A | dbSNP |
| 13 | g.32337022T>C | CA015988 | BRCA2 | c.2667T>C (p.Asn889=) c.2298T>C (p.Asn766=) n.2667T>C | ClinVar dbSNP |
| 13 | g.32337022T>G | CA387773369 | BRCA2 | c.2667T>G (p.Asn889Lys) c.2298T>G (p.Asn766Lys) n.2667T>G | dbSNP |
| 13 | g.32337022T= | CA2082810395 | BRCA2 | c.2667T= (p.Asn889=) c.2298T= (p.Asn766=) n.2667T= | |
| 13 | g.32337025dup | CA2727873213 | BRCA2 | c.2670dup (p.Val891CysfsTer6) c.2301dup (p.Val768CysfsTer6) n.2670dup | dbSNP |
| 13 | g.32337025del | CA658653669 | BRCA2 | c.2670del (p.Phe890LeufsTer5) c.2301del (p.Phe767LeufsTer5) n.2670del | ClinVar dbSNP |
| 13 | g.32337023T>A | CA387773371 | BRCA2 | c.2668T>A (p.Phe890Ile) c.2299T>A (p.Phe767Ile) n.2668T>A | dbSNP |
| 13 | g.32337023T>C | CA387773373 | BRCA2 | c.2668T>C (p.Phe890Leu) c.2299T>C (p.Phe767Leu) n.2668T>C | dbSNP |
| 13 | g.32337023T>G | CA387773374 | BRCA2 | c.2668T>G (p.Phe890Val) c.2299T>G (p.Phe767Val) n.2668T>G | |
| 13 | g.32337023T= | CA2082810404 | BRCA2 | c.2668T= (p.Phe890=) c.2299T= (p.Phe767=) n.2668T= | |
| 13 | g.32337024T>A | CA387773376 | BRCA2 | c.2669T>A (p.Phe890Tyr) c.2300T>A (p.Phe767Tyr) n.2669T>A | |
| 13 | g.32337024T>C | CA387773377 | BRCA2 | c.2669T>C (p.Phe890Ser) c.2300T>C (p.Phe767Ser) n.2669T>C | |
| 13 | g.32337024T>G | CA387773379 | BRCA2 | c.2669T>G (p.Phe890Cys) c.2300T>G (p.Phe767Cys) n.2669T>G | ClinVar |
| 13 | g.32337025T>A | CA387773380 | BRCA2 | c.2670T>A (p.Phe890Leu) c.2301T>A (p.Phe767Leu) n.2670T>A | dbSNP COSMIC COSMIC |
| 13 | g.32337025T>C | CA483437111 | BRCA2 | c.2670T>C (p.Phe890=) c.2301T>C (p.Phe767=) n.2670T>C | |
| 13 | g.32337025T>G | CA387773382 | BRCA2 | c.2670T>G (p.Phe890Leu) c.2301T>G (p.Phe767Leu) n.2670T>G | |
| 13 | g.32337026G>A | CA387773384 | BRCA2 | c.2671G>A (p.Val891Ile) c.2302G>A (p.Val768Ile) n.2671G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337026G>C | CA337799 | BRCA2 | c.2671G>C (p.Val891Leu) c.2302G>C (p.Val768Leu) n.2671G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337026G= | CA2082810414 | BRCA2 | c.2671G= (p.Val891=) c.2302G= (p.Val768=) n.2671G= | |
| 13 | g.32337026G>T | CA387773386 | BRCA2 | c.2671G>T (p.Val891Phe) c.2302G>T (p.Val768Phe) n.2671G>T | dbSNP |
| 13 | g.32337027T>A | CA387773391 | BRCA2 | c.2672T>A (p.Val891Asp) c.2303T>A (p.Val768Asp) n.2672T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337027T>C | CA387773390 | BRCA2 | c.2672T>C (p.Val891Ala) c.2303T>C (p.Val768Ala) n.2672T>C | ClinVar dbSNP |
| 13 | g.32337027T>G | CA387773388 | BRCA2 | c.2672T>G (p.Val891Gly) c.2303T>G (p.Val768Gly) n.2672T>G | |
| 13 | g.32337027T= | CA2082810426 | BRCA2 | c.2672T= (p.Val891=) c.2303T= (p.Val768=) n.2672T= | |
| 13 | g.32337027dup | CA1139663119 | BRCA2 | c.2672dup (p.Phe892LeufsTer5) c.2303dup (p.Phe769LeufsTer5) n.2672dup | ClinVar dbSNP |
| 13 | g.32337028C>A | CA483437116 | BRCA2 | c.2673C>A (p.Val891=) c.2304C>A (p.Val768=) n.2673C>A | dbSNP |
| 13 | g.32337028C>G | CA483437118 | BRCA2 | c.2673C>G (p.Val891=) c.2304C>G (p.Val768=) n.2673C>G | ClinVar dbSNP |
| 13 | g.32337028C>T | CA483437126 | BRCA2 | c.2673C>T (p.Val891=) c.2304C>T (p.Val768=) n.2673C>T | dbSNP |
| 13 | g.32337029T>A | CA387773393 | BRCA2 | c.2674T>A (p.Phe892Ile) c.2305T>A (p.Phe769Ile) n.2674T>A | dbSNP |
| 13 | g.32337029T>C | CA387773394 | BRCA2 | c.2674T>C (p.Phe892Leu) c.2305T>C (p.Phe769Leu) n.2674T>C | ClinVar dbSNP |
| 13 | g.32337029T>G | CA387773396 | BRCA2 | c.2674T>G (p.Phe892Val) c.2305T>G (p.Phe769Val) n.2674T>G | |
| 13 | g.32337029T= | CA2082810434 | BRCA2 | c.2674T= (p.Phe892=) c.2305T= (p.Phe769=) n.2674T= | |
| 13 | g.32337030T>A | CA387773397 | BRCA2 | c.2675T>A (p.Phe892Tyr) c.2306T>A (p.Phe769Tyr) n.2675T>A | dbSNP |
| 13 | g.32337030T>C | CA387773399 | BRCA2 | c.2675T>C (p.Phe892Ser) c.2306T>C (p.Phe769Ser) n.2675T>C | ClinVar |