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.32359467_32364093del | CA2580087377 | BRCA2 | c.7805+1538_8331+560del c.7436+1538_7962+560del c.272+1538_798+560del c.7805+1538_8339+560del c.370+1538_896+560del c.7709+1538_8235+560del | ClinVar |
| 13 | g.32362635_32362645delinsAAGGAATTTGC | CA2082831605 | BRCA2 | c.7918_7928delinsAAGGAATTTGC (p.Lys2640=) c.7549_7559delinsAAGGAATTTGC (p.Lys2517=) c.385_395delinsAAGGAATTTGC (p.Lys129=) c.7926_7936delinsAAGGAATTTGC (p.Leu2642=) c.483_493delinsAAGGAATTTGC n.7926_7936delinsAAGGAATTTGC c.7822_7832delinsAAGGAATTTGC (p.Lys2608=) | |
| 13 | g.32362636_32362645del | CA10585936 | BRCA2 | c.7919_7928del (p.Lys2640IlefsTer5) c.7550_7559del (p.Lys2517IlefsTer5) c.386_395del (p.Lys129IlefsTer5) c.7927_7936del (p.Arg2643Ter) c.484_493del n.7927_7936del c.7823_7832del (p.Lys2608IlefsTer5) | ClinVar dbSNP |
| 13 | g.32362637_32362643delinsGGAATTT | CA2082831659 | BRCA2 | c.7920_7926delinsGGAATTT (p.Lys2640=) c.7551_7557delinsGGAATTT (p.Lys2517=) c.387_393delinsGGAATTT (p.Lys129=) c.7928_7934delinsGGAATTT (p.Arg2643=) c.485_491delinsGGAATTT n.7928_7934delinsGGAATTT c.7824_7830delinsGGAATTT (p.Lys2608=) | |
| 13 | g.32362638G>A | CA387747186 | BRCA2 | c.7921G>A (p.Glu2641Lys) c.7552G>A (p.Glu2518Lys) c.388G>A (p.Glu130Lys) c.7929G>A (p.Arg2643=) c.486G>A n.7929G>A c.7825G>A (p.Glu2609Lys) | dbSNP |
| 13 | g.32362638G>C | CA387747187 | BRCA2 | c.7921G>C (p.Glu2641Gln) c.7552G>C (p.Glu2518Gln) c.388G>C (p.Glu130Gln) c.7929G>C (p.Arg2643Ser) c.486G>C n.7929G>C c.7825G>C (p.Glu2609Gln) | dbSNP |
| 13 | g.32362638G= | CA2082831689 | BRCA2 | c.7921G= (p.Glu2641=) c.7552G= (p.Glu2518=) c.388G= (p.Glu130=) c.7929G= (p.Arg2643=) c.486G= n.7929G= c.7825G= (p.Glu2609=) | |
| 13 | g.32362638G>T | CA10586582 | BRCA2 | c.7921G>T (p.Glu2641Ter) c.7552G>T (p.Glu2518Ter) c.388G>T (p.Glu130Ter) c.7929G>T (p.Arg2643Ser) c.486G>T n.7929G>T c.7825G>T (p.Glu2609Ter) | ClinVar dbSNP |
| 13 | g.32362638_32362643delinsAG | CA025336 | BRCA2 | c.7921_7926delinsAG (p.Glu2641ArgfsTer6) c.7552_7557delinsAG (p.Glu2518ArgfsTer6) c.388_393delinsAG (p.Glu130ArgfsTer6) c.7929_7934delinsAG (p.Asn2644GlyfsTer2) c.486_491delinsAG n.7929_7934delinsAG c.7825_7830delinsAG (p.Glu2609ArgfsTer6) | ClinVar dbSNP |
| 13 | g.32362639A>C | CA387747188 | BRCA2 | c.7922A>C (p.Glu2641Ala) c.7553A>C (p.Glu2518Ala) c.389A>C (p.Glu130Ala) c.7930A>C (p.Asn2644His) c.487A>C n.7930A>C c.7826A>C (p.Glu2609Ala) | |
| 13 | g.32362639A>G | CA387747189 | BRCA2 | c.7922A>G (p.Glu2641Gly) c.7553A>G (p.Glu2518Gly) c.389A>G (p.Glu130Gly) c.7930A>G (p.Asn2644Asp) c.487A>G n.7930A>G c.7826A>G (p.Glu2609Gly) | ClinVar dbSNP |
| 13 | g.32362639A>T | CA387747190 | BRCA2 | c.7922A>T (p.Glu2641Val) c.7553A>T (p.Glu2518Val) c.389A>T (p.Glu130Val) c.7930A>T (p.Asn2644Tyr) c.487A>T n.7930A>T c.7826A>T (p.Glu2609Val) | |
| 13 | g.32362640dup | CA2573149364 | BRCA2 | c.7923dup (p.Phe2642IlefsTer3) c.7554dup (p.Phe2519IlefsTer3) c.390dup (p.Phe131IlefsTer3) c.7931dup (p.Asn2644LysfsTer?) c.488dup n.7931dup c.7827dup (p.Phe2610IlefsTer3) | ClinVar dbSNP |
| 13 | g.32362640A>C | CA387747191 | BRCA2 | c.7923A>C (p.Glu2641Asp) c.7554A>C (p.Glu2518Asp) c.390A>C (p.Glu130Asp) c.7931A>C (p.Asn2644Thr) c.488A>C n.7931A>C c.7827A>C (p.Glu2609Asp) | |
| 13 | g.32362640A>G | CA483260977 | BRCA2 | c.7923A>G (p.Glu2641=) c.7554A>G (p.Glu2518=) c.390A>G (p.Glu130=) c.7931A>G (p.Asn2644Ser) c.488A>G n.7931A>G c.7827A>G (p.Glu2609=) | dbSNP gnomAD v4 |
| 13 | g.32362640A>T | CA387747192 | BRCA2 | c.7923A>T (p.Glu2641Asp) c.7554A>T (p.Glu2518Asp) c.390A>T (p.Glu130Asp) c.7931A>T (p.Asn2644Ile) c.488A>T n.7931A>T c.7827A>T (p.Glu2609Asp) | dbSNP |
| 13 | g.32362640_32362641delinsAT | CA2082831706 | BRCA2 | c.7923_7924delinsAT (p.Glu2641=) c.7554_7555delinsAT (p.Glu2518=) c.390_391delinsAT (p.Glu130=) c.7931_7932delinsAT (p.Asn2644=) c.488_489delinsAT n.7931_7932delinsAT c.7827_7828delinsAT (p.Glu2609=) | |
| 13 | g.32362641T>A | CA387747193 | BRCA2 | c.7924T>A (p.Phe2642Ile) c.7555T>A (p.Phe2519Ile) c.391T>A (p.Phe131Ile) c.7932T>A (p.Asn2644Lys) c.489T>A n.7932T>A c.7828T>A (p.Phe2610Ile) | dbSNP |
| 13 | g.32362641T>C | CA387747194 | BRCA2 | c.7924T>C (p.Phe2642Leu) c.7555T>C (p.Phe2519Leu) c.391T>C (p.Phe131Leu) c.7932T>C (p.Asn2644=) c.489T>C n.7932T>C c.7828T>C (p.Phe2610Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32362641T>G | CA387747195 | BRCA2 | c.7924T>G (p.Phe2642Val) c.7555T>G (p.Phe2519Val) c.391T>G (p.Phe131Val) c.7932T>G (p.Asn2644Lys) c.489T>G n.7932T>G c.7828T>G (p.Phe2610Val) | |
| 13 | g.32362641T= | CA2082831716 | BRCA2 | c.7924T= (p.Phe2642=) c.7555T= (p.Phe2519=) c.391T= (p.Phe131=) c.7932T= (p.Asn2644=) c.489T= n.7932T= c.7828T= (p.Phe2610=) | |
| 13 | g.32362643del | CA025337 | BRCA2 | c.7926del (p.Phe2642LeufsTer6) c.7557del (p.Phe2519LeufsTer6) c.393del (p.Phe131LeufsTer6) c.7934del (p.Leu2645CysfsTer2) c.491del n.7934del c.7830del (p.Phe2610LeufsTer6) | ClinVar dbSNP |
| 13 | g.32362642T>A | CA387747196 | BRCA2 | c.7925T>A (p.Phe2642Tyr) c.7556T>A (p.Phe2519Tyr) c.392T>A (p.Phe131Tyr) c.7933T>A (p.Leu2645Met) c.490T>A n.7933T>A c.7829T>A (p.Phe2610Tyr) | dbSNP |
| 13 | g.32362642T>C | CA387747197 | BRCA2 | c.7925T>C (p.Phe2642Ser) c.7556T>C (p.Phe2519Ser) c.392T>C (p.Phe131Ser) c.7933T>C (p.Leu2645=) c.490T>C n.7933T>C c.7829T>C (p.Phe2610Ser) | dbSNP gnomAD v4 |
| 13 | g.32362642T>G | CA387747198 | BRCA2 | c.7925T>G (p.Phe2642Cys) c.7556T>G (p.Phe2519Cys) c.392T>G (p.Phe131Cys) c.7933T>G (p.Leu2645Val) c.490T>G n.7933T>G c.7829T>G (p.Phe2610Cys) | ClinVar dbSNP |
| 13 | g.32362642T= | CA2082831721 | BRCA2 | c.7925T= (p.Phe2642=) c.7556T= (p.Phe2519=) c.392T= (p.Phe131=) c.7933T= (p.Leu2645=) c.490T= n.7933T= c.7829T= (p.Phe2610=) | |
| 13 | g.32362643T>A | CA387747200 | BRCA2 | c.7926T>A (p.Phe2642Leu) c.7557T>A (p.Phe2519Leu) c.393T>A (p.Phe131Leu) c.7934T>A (p.Leu2645Ter) c.491T>A n.7934T>A c.7830T>A (p.Phe2610Leu) | dbSNP |
| 13 | g.32362643T>C | CA483260981 | BRCA2 | c.7926T>C (p.Phe2642=) c.7557T>C (p.Phe2519=) c.393T>C (p.Phe131=) c.7934T>C (p.Leu2645Ser) c.491T>C n.7934T>C c.7830T>C (p.Phe2610=) | gnomAD v4 |
| 13 | g.32362643T>G | CA387747199 | BRCA2 | c.7926T>G (p.Phe2642Leu) c.7557T>G (p.Phe2519Leu) c.393T>G (p.Phe131Leu) c.7934T>G (p.Leu2645Trp) c.491T>G n.7934T>G c.7830T>G (p.Phe2610Leu) | ClinVar dbSNP |
| 13 | g.32362643T= | CA2082831729 | BRCA2 | c.7926T= (p.Phe2642=) c.7557T= (p.Phe2519=) c.393T= (p.Phe131=) c.7934T= (p.Leu2645=) c.491T= n.7934T= c.7830T= (p.Phe2610=) | |
| 13 | g.32362644G>A | CA387747201 | BRCA2 | c.7927G>A (p.Ala2643Thr) c.7558G>A (p.Ala2520Thr) c.394G>A (p.Ala132Thr) c.7935G>A (p.Leu2645=) c.492G>A n.7935G>A c.7831G>A (p.Ala2611Thr) | ClinVar dbSNP |
| 13 | g.32362644G>C | CA387747202 | BRCA2 | c.7927G>C (p.Ala2643Pro) c.7558G>C (p.Ala2520Pro) c.394G>C (p.Ala132Pro) c.7935G>C (p.Leu2645Phe) c.492G>C n.7935G>C c.7831G>C (p.Ala2611Pro) | dbSNP |
| 13 | g.32362644G= | CA2082831739 | BRCA2 | c.7927G= (p.Ala2643=) c.7558G= (p.Ala2520=) c.394G= (p.Ala132=) c.7935G= (p.Leu2645=) c.492G= n.7935G= c.7831G= (p.Ala2611=) | |
| 13 | g.32362644G>T | CA387747203 | BRCA2 | c.7927G>T (p.Ala2643Ser) c.7558G>T (p.Ala2520Ser) c.394G>T (p.Ala132Ser) c.7935G>T (p.Leu2645Phe) c.492G>T n.7935G>T c.7831G>T (p.Ala2611Ser) | dbSNP gnomAD v4 |
| 13 | g.32362645C>A | CA387747204 | BRCA2 | c.7928C>A (p.Ala2643Asp) c.7559C>A (p.Ala2520Asp) c.395C>A (p.Ala132Asp) c.7936C>A (p.Leu2646Ile) c.493C>A n.7936C>A c.7832C>A (p.Ala2611Asp) | dbSNP |
| 13 | g.32362645C= | CA2082831749 | BRCA2 | c.7928C= (p.Ala2643=) c.7559C= (p.Ala2520=) c.395C= (p.Ala132=) c.7936C= (p.Leu2646=) c.493C= n.7936C= c.7832C= (p.Ala2611=) | |
| 13 | g.32362645C>G | CA025338 | BRCA2 | c.7928C>G (p.Ala2643Gly) c.7559C>G (p.Ala2520Gly) c.395C>G (p.Ala132Gly) c.7936C>G (p.Leu2646Val) c.493C>G n.7936C>G c.7832C>G (p.Ala2611Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32362645C>T | CA025339 | BRCA2 | c.7928C>T (p.Ala2643Val) c.7559C>T (p.Ala2520Val) c.395C>T (p.Ala132Val) c.7936C>T (p.Leu2646=) c.493C>T n.7936C>T c.7832C>T (p.Ala2611Val) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32362646T>A | CA483260987 | BRCA2 | c.7929T>A (p.Ala2643=) c.7560T>A (p.Ala2520=) c.396T>A (p.Ala132=) c.7937T>A (p.Leu2646Gln) c.494T>A n.7937T>A c.7833T>A (p.Ala2611=) | |
| 13 | g.32362646T>C | CA483260988 | BRCA2 | c.7929T>C (p.Ala2643=) c.7560T>C (p.Ala2520=) c.396T>C (p.Ala132=) c.7937T>C (p.Leu2646Pro) c.494T>C n.7937T>C c.7833T>C (p.Ala2611=) | ClinVar dbSNP |
| 13 | g.32362646T>G | CA483260986 | BRCA2 | c.7929T>G (p.Ala2643=) c.7560T>G (p.Ala2520=) c.396T>G (p.Ala132=) c.7937T>G (p.Leu2646Arg) c.494T>G n.7937T>G c.7833T>G (p.Ala2611=) | |
| 13 | g.32362646T= | CA2082831764 | BRCA2 | c.7929T= (p.Ala2643=) c.7560T= (p.Ala2520=) c.396T= (p.Ala132=) c.7937T= (p.Leu2646=) c.494T= n.7937T= c.7833T= (p.Ala2611=) | |
| 13 | g.32362647A= | CA2082831776 | BRCA2 | c.7930A= (p.Asn2644=) c.7561A= (p.Asn2521=) c.397A= (p.Asn133=) c.7938A= (p.Leu2646=) c.495A= n.7938A= c.7834A= (p.Asn2612=) | |
| 13 | g.32362647A>C | CA387747205 | BRCA2 | c.7930A>C (p.Asn2644His) c.7561A>C (p.Asn2521His) c.397A>C (p.Asn133His) c.7938A>C (p.Leu2646=) c.495A>C n.7938A>C c.7834A>C (p.Asn2612His) | |
| 13 | g.32362647A>G | CA025340 | BRCA2 | c.7930A>G (p.Asn2644Asp) c.7561A>G (p.Asn2521Asp) c.397A>G (p.Asn133Asp) c.7938A>G (p.Leu2646=) c.495A>G n.7938A>G c.7834A>G (p.Asn2612Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32362647A>T | CA387747206 | BRCA2 | c.7930A>T (p.Asn2644Tyr) c.7561A>T (p.Asn2521Tyr) c.397A>T (p.Asn133Tyr) c.7938A>T (p.Leu2646=) c.495A>T n.7938A>T c.7834A>T (p.Asn2612Tyr) | dbSNP |
| 13 | g.32362648A= | CA2082831805 | BRCA2 | c.7931A= (p.Asn2644=) c.7562A= (p.Asn2521=) c.398A= (p.Asn133=) c.7939A= (p.Ile2647=) c.496A= n.7939A= c.7835A= (p.Asn2612=) | |
| 13 | g.32362648A>C | CA387747207 | BRCA2 | c.7931A>C (p.Asn2644Thr) c.7562A>C (p.Asn2521Thr) c.398A>C (p.Asn133Thr) c.7939A>C (p.Ile2647Leu) c.496A>C n.7939A>C c.7835A>C (p.Asn2612Thr) | dbSNP |
| 13 | g.32362648A>G | CA025341 | BRCA2 | c.7931A>G (p.Asn2644Ser) c.7562A>G (p.Asn2521Ser) c.398A>G (p.Asn133Ser) c.7939A>G (p.Ile2647Val) c.496A>G n.7939A>G c.7835A>G (p.Asn2612Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32362648A>T | CA387747208 | BRCA2 | c.7931A>T (p.Asn2644Ile) c.7562A>T (p.Asn2521Ile) c.398A>T (p.Asn133Ile) c.7939A>T (p.Ile2647Leu) c.496A>T n.7939A>T c.7835A>T (p.Asn2612Ile) | dbSNP |