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.32337120dup | CA016303 | BRCA2 | c.2765dup (p.Lys923GlnfsTer13) c.2396dup (p.Lys800GlnfsTer13) n.2765dup | ClinVar dbSNP |
| 13 | g.32337118_32337132delinsTTTCAAGAACTCTAC | CA2082811108 | BRCA2 | c.2763_2777delinsTTTCAAGAACTCTAC (p.Ile921=) c.2394_2408delinsTTTCAAGAACTCTAC (p.Ile798=) n.2763_2777delinsTTTCAAGAACTCTAC | |
| 13 | g.32337119T>A | CA387773667 | BRCA2 | c.2764T>A (p.Phe922Ile) c.2395T>A (p.Phe799Ile) n.2764T>A | dbSNP |
| 13 | g.32337119T>C | CA387773668 | BRCA2 | c.2764T>C (p.Phe922Leu) c.2395T>C (p.Phe799Leu) n.2764T>C | |
| 13 | g.32337119T>G | CA387773669 | BRCA2 | c.2764T>G (p.Phe922Val) c.2395T>G (p.Phe799Val) n.2764T>G | |
| 13 | g.32337119_32337132del | CA10589172 | BRCA2 | c.2764_2777del (p.Phe922HisfsTer9) c.2395_2408del (p.Phe799HisfsTer9) n.2764_2777del | ClinVar dbSNP |
| 13 | g.32337120T>A | CA387773670 | BRCA2 | c.2765T>A (p.Phe922Tyr) c.2396T>A (p.Phe799Tyr) n.2765T>A | dbSNP |
| 13 | g.32337120T>C | CA387773671 | BRCA2 | c.2765T>C (p.Phe922Ser) c.2396T>C (p.Phe799Ser) n.2765T>C | dbSNP |
| 13 | g.32337120T>G | CA387773672 | BRCA2 | c.2765T>G (p.Phe922Cys) c.2396T>G (p.Phe799Cys) n.2765T>G | ClinVar dbSNP |
| 13 | g.32337120T= | CA2082811125 | BRCA2 | c.2765T= (p.Phe922=) c.2396T= (p.Phe799=) n.2765T= | |
| 13 | g.32337121C>A | CA6940628 | BRCA2 | c.2766C>A (p.Phe922Leu) c.2397C>A (p.Phe799Leu) n.2766C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337121C= | CA2082811137 | BRCA2 | c.2766C= (p.Phe922=) c.2397C= (p.Phe799=) n.2766C= | |
| 13 | g.32337121C>G | CA387773673 | BRCA2 | c.2766C>G (p.Phe922Leu) c.2397C>G (p.Phe799Leu) n.2766C>G | dbSNP |
| 13 | g.32337121C>T | CA483437370 | BRCA2 | c.2766C>T (p.Phe922=) c.2397C>T (p.Phe799=) n.2766C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337122A= | CA2082811146 | BRCA2 | c.2767A= (p.Lys923=) c.2398A= (p.Lys800=) n.2767A= | |
| 13 | g.32337122A>C | CA387773674 | BRCA2 | c.2767A>C (p.Lys923Gln) c.2398A>C (p.Lys800Gln) n.2767A>C | |
| 13 | g.32337122A>G | CA387773675 | BRCA2 | c.2767A>G (p.Lys923Glu) c.2398A>G (p.Lys800Glu) n.2767A>G | ClinVar dbSNP |
| 13 | g.32337122A>T | CA387773676 | BRCA2 | c.2767A>T (p.Lys923Ter) c.2398A>T (p.Lys800Ter) n.2767A>T | dbSNP |
| 13 | g.32337123A= | CA2082811148 | BRCA2 | c.2768A= (p.Lys923=) c.2399A= (p.Lys800=) n.2768A= | |
| 13 | g.32337123A>C | CA387773677 | BRCA2 | c.2768A>C (p.Lys923Thr) c.2399A>C (p.Lys800Thr) n.2768A>C | |
| 13 | g.32337123A>G | CA387773678 | BRCA2 | c.2768A>G (p.Lys923Arg) c.2399A>G (p.Lys800Arg) n.2768A>G | ClinVar dbSNP |
| 13 | g.32337123A>T | CA387773679 | BRCA2 | c.2768A>T (p.Lys923Met) c.2399A>T (p.Lys800Met) n.2768A>T | dbSNP |
| 13 | g.32337124G>A | CA483437375 | BRCA2 | c.2769G>A (p.Lys923=) c.2400G>A (p.Lys800=) n.2769G>A | dbSNP |
| 13 | g.32337124G>C | CA387773681 | BRCA2 | c.2769G>C (p.Lys923Asn) c.2400G>C (p.Lys800Asn) n.2769G>C | dbSNP |
| 13 | g.32337124G>T | CA387773680 | BRCA2 | c.2769G>T (p.Lys923Asn) c.2400G>T (p.Lys800Asn) n.2769G>T | ClinVar dbSNP |
| 13 | g.32337125A>C | CA387773682 | BRCA2 | c.2770A>C (p.Asn924His) c.2401A>C (p.Asn801His) n.2770A>C | dbSNP |
| 13 | g.32337125A>G | CA387773683 | BRCA2 | c.2770A>G (p.Asn924Asp) c.2401A>G (p.Asn801Asp) n.2770A>G | dbSNP |
| 13 | g.32337125A>T | CA387773684 | BRCA2 | c.2770A>T (p.Asn924Tyr) c.2401A>T (p.Asn801Tyr) n.2770A>T | dbSNP |
| 13 | g.32337126A= | CA2082811157 | BRCA2 | c.2771A= (p.Asn924=) c.2402A= (p.Asn801=) n.2771A= | |
| 13 | g.32337126A>C | CA387773685 | BRCA2 | c.2771A>C (p.Asn924Thr) c.2402A>C (p.Asn801Thr) n.2771A>C | |
| 13 | g.32337126A>G | CA387773686 | BRCA2 | c.2771A>G (p.Asn924Ser) c.2402A>G (p.Asn801Ser) n.2771A>G | |
| 13 | g.32337126A>T | CA016313 | BRCA2 | c.2771A>T (p.Asn924Ile) c.2402A>T (p.Asn801Ile) n.2771A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337126_32337128delinsACT | CA2082811163 | BRCA2 | c.2771_2773delinsACT (p.Asn924=) c.2402_2404delinsACT (p.Asn801=) n.2771_2773delinsACT | |
| 13 | g.32337127C>A | CA387773687 | BRCA2 | c.2772C>A (p.Asn924Lys) c.2403C>A (p.Asn801Lys) n.2772C>A | dbSNP |
| 13 | g.32337127C= | CA2082811174 | BRCA2 | c.2772C= (p.Asn924=) c.2403C= (p.Asn801=) n.2772C= | |
| 13 | g.32337127C>G | CA387773688 | BRCA2 | c.2772C>G (p.Asn924Lys) c.2403C>G (p.Asn801Lys) n.2772C>G | dbSNP |
| 13 | g.32337127C>T | CA10579551 | BRCA2 | c.2772C>T (p.Asn924=) c.2403C>T (p.Asn801=) n.2772C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337127_32337130del | CA2580087298 | BRCA2 | c.2772_2775del (p.Asn924LysfsTer?) c.2403_2406del (p.Asn801LysfsTer?) n.2772_2775del | ClinVar |
| 13 | g.32337127_32337130delinsCTCT | CA2082811179 | BRCA2 | c.2772_2775delinsCTCT (p.Asn924=) c.2403_2406delinsCTCT (p.Asn801=) n.2772_2775delinsCTCT | |
| 13 | g.32337129_32337130del | CA016331 | BRCA2 | c.2774_2775del (p.Ser925TyrfsTer10) c.2405_2406del (p.Ser802TyrfsTer10) n.2774_2775del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337128T>A | CA387773689 | BRCA2 | c.2773T>A (p.Ser925Thr) c.2404T>A (p.Ser802Thr) n.2773T>A | dbSNP |
| 13 | g.32337128T>C | CA387773690 | BRCA2 | c.2773T>C (p.Ser925Pro) c.2404T>C (p.Ser802Pro) n.2773T>C | ClinVar dbSNP |
| 13 | g.32337128T>G | CA387773691 | BRCA2 | c.2773T>G (p.Ser925Ala) c.2404T>G (p.Ser802Ala) n.2773T>G | |
| 13 | g.32337128T= | CA2082811194 | BRCA2 | c.2773T= (p.Ser925=) c.2404T= (p.Ser802=) n.2773T= | |
| 13 | g.32337128dup | CA016320 | BRCA2 | c.2773dup (p.Ser925PhefsTer11) c.2404dup (p.Ser802PhefsTer11) n.2773dup | ClinVar dbSNP |
| 13 | g.32337128_32337130delinsGA | CA1139663125 | BRCA2 | c.2773_2775delinsGA (p.Ser925GlufsTer?) c.2404_2406delinsGA (p.Ser802GlufsTer?) n.2773_2775delinsGA | ClinVar dbSNP |
| 13 | g.32337129C>A | CA387773692 | BRCA2 | c.2774C>A (p.Ser925Tyr) c.2405C>A (p.Ser802Tyr) n.2774C>A | dbSNP |
| 13 | g.32337129C= | CA2082811206 | BRCA2 | c.2774C= (p.Ser925=) c.2405C= (p.Ser802=) n.2774C= |