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.32370402_32380145del | CA2581463483 | BRCA2 | c.8332_9256del c.8332_*623del c.7963_8887del c.8332_*818del c.8332_9205del c.799_1672del c.8340_9264del c.897_2134del c.8236_9160del | |
| 13 | g.32370503_32371631dup | CA2580087371 | BRCA2 | c.8433_8632+531dup c.8064_8263+531dup c.900_1099+531dup c.8441_8640+531dup c.998_1197+531dup c.8337_8536+531dup | ClinVar |
| 13 | g.32371034_32371039del | CA2515000285 | BRCA2 | c.8566_8571del (p.Glu2856_Ala2857del) c.8197_8202del (p.Glu2733_Ala2734del) c.1033_1038del (p.Glu345_Ala346del) c.8574_8579del (n.8574_8579del) c.1131_1136del c.64_69del (p.Glu22_Ala23del) c.8470_8475del (p.Glu2824_Ala2825del) | |
| 13 | g.32371037_32371044del | CA2511483729 | BRCA2 | c.8569_8576del (p.Ala2857LysfsTer9) c.8200_8207del (p.Ala2734LysfsTer9) c.1036_1043del (p.Ala346LysfsTer9) c.8577_8584del (n.8577_8584del) c.1134_1141del c.67_74del (p.Ala23LysfsTer9) c.8473_8480del (p.Ala2825LysfsTer9) | |
| 13 | g.32371040del | CA10589509 | BRCA2 | c.8572del (p.Gln2858AsnfsTer5) c.8203del (p.Gln2735AsnfsTer5) c.1039del (p.Gln347AsnfsTer5) c.8580del (n.8580del) c.1137del c.70del (p.Gln24AsnfsTer5) c.8476del (p.Gln2826AsnfsTer5) | ClinVar dbSNP |
| 13 | g.32371039C>A | CA483261524 | BRCA2 | c.8571C>A (p.Ala2857=) c.8202C>A (p.Ala2734=) c.1038C>A (p.Ala346=) c.8579C>A (n.8579C>A) c.1136C>A c.69C>A (p.Ala23=) c.8475C>A (p.Ala2825=) | ClinVar dbSNP |
| 13 | g.32371039C>G | CA483261525 | BRCA2 | c.8571C>G (p.Ala2857=) c.8202C>G (p.Ala2734=) c.1038C>G (p.Ala346=) c.8579C>G (n.8579C>G) c.1136C>G c.69C>G (p.Ala23=) c.8475C>G (p.Ala2825=) | dbSNP |
| 13 | g.32371039C>T | CA483261526 | BRCA2 | c.8571C>T (p.Ala2857=) c.8202C>T (p.Ala2734=) c.1038C>T (p.Ala346=) c.8579C>T (n.8579C>T) c.1136C>T c.69C>T (p.Ala23=) c.8475C>T (p.Ala2825=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371040C>A | CA025715 | BRCA2 | c.8572C>A (p.Gln2858Lys) c.8203C>A (p.Gln2735Lys) c.1039C>A (p.Gln347Lys) c.8580C>A (n.8580C>A) c.1137C>A c.70C>A (p.Gln24Lys) c.8476C>A (p.Gln2826Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371040C= | CA2082816082 | BRCA2 | c.8572C= (p.Gln2858=) c.8203C= (p.Gln2735=) c.1039C= (p.Gln347=) c.8580C= (n.8580C=) c.1137C= c.70C= (p.Gln24=) c.8476C= (p.Gln2826=) | |
| 13 | g.32371040C>G | CA387752819 | BRCA2 | c.8572C>G (p.Gln2858Glu) c.8203C>G (p.Gln2735Glu) c.1039C>G (p.Gln347Glu) c.8580C>G (n.8580C>G) c.1137C>G c.70C>G (p.Gln24Glu) c.8476C>G (p.Gln2826Glu) | |
| 13 | g.32371040C>T | CA025716 | BRCA2 | c.8572C>T (p.Gln2858Ter) c.8203C>T (p.Gln2735Ter) c.1039C>T (p.Gln347Ter) c.8580C>T (n.8580C>T) c.1137C>T c.70C>T (p.Gln24Ter) c.8476C>T (p.Gln2826Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371041A= | CA2082816095 | BRCA2 | c.8573A= (p.Gln2858=) c.8204A= (p.Gln2735=) c.1040A= (p.Gln347=) c.8581A= (n.8581A=) c.1138A= c.71A= (p.Gln24=) c.8477A= (p.Gln2826=) | |
| 13 | g.32371041A>C | CA387752820 | BRCA2 | c.8573A>C (p.Gln2858Pro) c.8204A>C (p.Gln2735Pro) c.1040A>C (p.Gln347Pro) c.8581A>C (n.8581A>C) c.1138A>C c.71A>C (p.Gln24Pro) c.8477A>C (p.Gln2826Pro) | ClinVar dbSNP |
| 13 | g.32371041A>G | CA025717 | BRCA2 | c.8573A>G (p.Gln2858Arg) c.8204A>G (p.Gln2735Arg) c.1040A>G (p.Gln347Arg) c.8581A>G (n.8581A>G) c.1138A>G c.71A>G (p.Gln24Arg) c.8477A>G (p.Gln2826Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371041A>T | CA387752821 | BRCA2 | c.8573A>T (p.Gln2858Leu) c.8204A>T (p.Gln2735Leu) c.1040A>T (p.Gln347Leu) c.8581A>T (n.8581A>T) c.1138A>T c.71A>T (p.Gln24Leu) c.8477A>T (p.Gln2826Leu) | dbSNP |
| 13 | g.32371042A= | CA2082816116 | BRCA2 | c.8574A= (p.Gln2858=) c.8205A= (p.Gln2735=) c.1041A= (p.Gln347=) c.8582A= (n.8582A=) c.1139A= c.72A= (p.Gln24=) c.8478A= (p.Gln2826=) | |
| 13 | g.32371042A>C | CA387752822 | BRCA2 | c.8574A>C (p.Gln2858His) c.8205A>C (p.Gln2735His) c.1041A>C (p.Gln347His) c.8582A>C (n.8582A>C) c.1139A>C c.72A>C (p.Gln24His) c.8478A>C (p.Gln2826His) | dbSNP |
| 13 | g.32371042A>G | CA483261527 | BRCA2 | c.8574A>G (p.Gln2858=) c.8205A>G (p.Gln2735=) c.1041A>G (p.Gln347=) c.8582A>G (n.8582A>G) c.1139A>G c.72A>G (p.Gln24=) c.8478A>G (p.Gln2826=) | dbSNP |
| 13 | g.32371042A>T | CA387752823 | BRCA2 | c.8574A>T (p.Gln2858His) c.8205A>T (p.Gln2735His) c.1041A>T (p.Gln347His) c.8582A>T (n.8582A>T) c.1139A>T c.72A>T (p.Gln24His) c.8478A>T (p.Gln2826His) | dbSNP |
| 13 | g.32371042_32371043delinsAC | CA2082816114 | BRCA2 | c.8574_8575delinsAC (p.Gln2858=) c.8205_8206delinsAC (p.Gln2735=) c.1041_1042delinsAC (p.Gln347=) c.8582_8583delinsAC (n.8582_8583delinsAC) c.1139_1140delinsAC c.72_73delinsAC (p.Gln24=) c.8478_8479delinsAC (p.Gln2826=) | |
| 13 | g.32371043del | CA025719 | BRCA2 | c.8575del (p.Gln2859LysfsTer4) c.8206del (p.Gln2736LysfsTer4) c.1042del (p.Gln348LysfsTer4) c.8583del (n.8583del) c.1140del c.73del (p.Gln25LysfsTer4) c.8479del (p.Gln2827LysfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32371043C>A | CA387752824 | BRCA2 | c.8575C>A (p.Gln2859Lys) c.8206C>A (p.Gln2736Lys) c.1042C>A (p.Gln348Lys) c.8583C>A (n.8583C>A) c.1140C>A c.73C>A (p.Gln25Lys) c.8479C>A (p.Gln2827Lys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371043C= | CA2082816129 | BRCA2 | c.8575C= (p.Gln2859=) c.8206C= (p.Gln2736=) c.1042C= (p.Gln348=) c.8583C= (n.8583C=) c.1140C= c.73C= (p.Gln25=) c.8479C= (p.Gln2827=) | |
| 13 | g.32371043C>G | CA387752825 | BRCA2 | c.8575C>G (p.Gln2859Glu) c.8206C>G (p.Gln2736Glu) c.1042C>G (p.Gln348Glu) c.8583C>G (n.8583C>G) c.1140C>G c.73C>G (p.Gln25Glu) c.8479C>G (p.Gln2827Glu) | |
| 13 | g.32371043C>T | CA025718 | BRCA2 | c.8575C>T (p.Gln2859Ter) c.8206C>T (p.Gln2736Ter) c.1042C>T (p.Gln348Ter) c.8583C>T (n.8583C>T) c.1140C>T c.73C>T (p.Gln25Ter) c.8479C>T (p.Gln2827Ter) | ClinVar dbSNP |
| 13 | g.32371043dup | CA2798730082 | BRCA2 | c.8575dup (p.Gln2859ProfsTer10) c.8206dup (p.Gln2736ProfsTer10) c.1042dup (p.Gln348ProfsTer10) c.8583dup (n.8583dup) c.1140dup c.73dup (p.Gln25ProfsTer10) c.8479dup (p.Gln2827ProfsTer10) | |
| 13 | g.32371043_32371045delinsCAA | CA2082816134 | BRCA2 | c.8575_8577delinsCAA (p.Gln2859=) c.8206_8208delinsCAA (p.Gln2736=) c.1042_1044delinsCAA (p.Gln348=) c.8583_8585delinsCAA (n.8583_8585delinsCAA) c.1140_1142delinsCAA c.73_75delinsCAA (p.Gln25=) c.8479_8481delinsCAA (p.Gln2827=) | |
| 13 | g.32371044A>C | CA387752827 | BRCA2 | c.8576A>C (p.Gln2859Pro) c.8207A>C (p.Gln2736Pro) c.1043A>C (p.Gln348Pro) c.8584A>C (n.8584A>C) c.1141A>C c.74A>C (p.Gln25Pro) c.8480A>C (p.Gln2827Pro) | ClinVar dbSNP |
| 13 | g.32371044A>G | CA387752826 | BRCA2 | c.8576A>G (p.Gln2859Arg) c.8207A>G (p.Gln2736Arg) c.1043A>G (p.Gln348Arg) c.8584A>G (n.8584A>G) c.1141A>G c.74A>G (p.Gln25Arg) c.8480A>G (p.Gln2827Arg) | ClinVar dbSNP |
| 13 | g.32371044A>T | CA387752828 | BRCA2 | c.8576A>T (p.Gln2859Leu) c.8207A>T (p.Gln2736Leu) c.1043A>T (p.Gln348Leu) c.8584A>T (n.8584A>T) c.1141A>T c.74A>T (p.Gln25Leu) c.8480A>T (p.Gln2827Leu) | |
| 13 | g.32371047del | CA025721 | BRCA2 | c.8579del (p.Lys2860ArgfsTer3) c.8210del (p.Lys2737ArgfsTer3) c.1046del (p.Lys349ArgfsTer3) c.8587del (n.8587del) c.1144del c.77del (p.Lys26ArgfsTer3) c.8483del (p.Lys2828ArgfsTer3) | ClinVar dbSNP |
| 13 | g.32371046_32371047del | CA025720 | BRCA2 | c.8578_8579del (p.Lys2860GlufsTer8) c.8209_8210del (p.Lys2737GlufsTer8) c.1045_1046del (p.Lys349GlufsTer8) c.8586_8587del (n.8586_8587del) c.1143_1144del c.76_77del (p.Lys26GlufsTer8) c.8482_8483del (p.Lys2828GlufsTer8) | ClinVar dbSNP |
| 13 | g.32371045A>C | CA387752830 | BRCA2 | c.8577A>C (p.Gln2859His) c.8208A>C (p.Gln2736His) c.1044A>C (p.Gln348His) c.8585A>C (n.8585A>C) c.1142A>C c.75A>C (p.Gln25His) c.8481A>C (p.Gln2827His) | ClinVar dbSNP |
| 13 | g.32371045A>G | CA483261529 | BRCA2 | c.8577A>G (p.Gln2859=) c.8208A>G (p.Gln2736=) c.1044A>G (p.Gln348=) c.8585A>G (n.8585A>G) c.1142A>G c.75A>G (p.Gln25=) c.8481A>G (p.Gln2827=) | ClinVar dbSNP |
| 13 | g.32371045A>T | CA387752829 | BRCA2 | c.8577A>T (p.Gln2859His) c.8208A>T (p.Gln2736His) c.1044A>T (p.Gln348His) c.8585A>T (n.8585A>T) c.1142A>T c.75A>T (p.Gln25His) c.8481A>T (p.Gln2827His) | dbSNP |
| 13 | g.32371046A>C | CA387752831 | BRCA2 | c.8578A>C (p.Lys2860Gln) c.8209A>C (p.Lys2737Gln) c.1045A>C (p.Lys349Gln) c.8586A>C (n.8586A>C) c.1143A>C c.76A>C (p.Lys26Gln) c.8482A>C (p.Lys2828Gln) | |
| 13 | g.32371046A>G | CA387752833 | BRCA2 | c.8578A>G (p.Lys2860Glu) c.8209A>G (p.Lys2737Glu) c.1045A>G (p.Lys349Glu) c.8586A>G (n.8586A>G) c.1143A>G c.76A>G (p.Lys26Glu) c.8482A>G (p.Lys2828Glu) | |
| 13 | g.32371046A>T | CA387752832 | BRCA2 | c.8578A>T (p.Lys2860Ter) c.8209A>T (p.Lys2737Ter) c.1045A>T (p.Lys349Ter) c.8586A>T (n.8586A>T) c.1143A>T c.76A>T (p.Lys26Ter) c.8482A>T (p.Lys2828Ter) | |
| 13 | g.32371046_32371048delinsAAG | CA2082816148 | BRCA2 | c.8578_8580delinsAAG (p.Lys2860=) c.8209_8211delinsAAG (p.Lys2737=) c.1045_1047delinsAAG (p.Lys349=) c.8586_8588delinsAAG (n.8586_8588delinsAAG) c.1143_1145delinsAAG c.76_78delinsAAG (p.Lys26=) c.8482_8484delinsAAG (p.Lys2828=) | |
| 13 | g.32371046_32371047insTTT | CA2507872694 | BRCA2 | c.8578_8579insTTT (p.Lys2860IlefsTer2) c.8209_8210insTTT (p.Lys2737IlefsTer2) c.1045_1046insTTT (p.Lys349IlefsTer2) c.8586_8587insTTT (n.8586_8587insTTT) c.1143_1144insTTT c.76_77insTTT (p.Lys26IlefsTer2) c.8482_8483insTTT (p.Lys2828IlefsTer2) | |
| 13 | g.32371047A>C | CA387752834 | BRCA2 | c.8579A>C (p.Lys2860Thr) c.8210A>C (p.Lys2737Thr) c.1046A>C (p.Lys349Thr) c.8587A>C (n.8587A>C) c.1144A>C c.77A>C (p.Lys26Thr) c.8483A>C (p.Lys2828Thr) | dbSNP |
| 13 | g.32371047A>G | CA387752835 | BRCA2 | c.8579A>G (p.Lys2860Arg) c.8210A>G (p.Lys2737Arg) c.1046A>G (p.Lys349Arg) c.8587A>G (n.8587A>G) c.1144A>G c.77A>G (p.Lys26Arg) c.8483A>G (p.Lys2828Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32371047A>T | CA387752836 | BRCA2 | c.8579A>T (p.Lys2860Met) c.8210A>T (p.Lys2737Met) c.1046A>T (p.Lys349Met) c.8587A>T (n.8587A>T) c.1144A>T c.77A>T (p.Lys26Met) c.8483A>T (p.Lys2828Met) | |
| 13 | g.32371047_32371048insACCCAAACACACCCAACACA | CA2798730083 | BRCA2 | c.8579_8580insACCCAAACACACCCAACACA (p.Arg2861ProfsTer9) c.8210_8211insACCCAAACACACCCAACACA (p.Arg2738ProfsTer9) c.1046_1047insACCCAAACACACCCAACACA (p.Arg350ProfsTer9) c.8587_8588insACCCAAACACACCCAACACA (n.8587_8588insACCCAAACACACCCAACACA) c.1144_1145insACCCAAACACACCCAACACA c.77_78insACCCAAACACACCCAACACA (p.Arg27ProfsTer9) c.8483_8484insACCCAAACACACCCAACACA (p.Arg2829ProfsTer9) | |
| 13 | g.32371050_32371051del | CA915946899 | BRCA2 | c.8582_8583del (p.Arg2861ThrfsTer7) c.8213_8214del (p.Arg2738ThrfsTer7) c.1049_1050del (p.Arg350ThrfsTer7) c.8590_8591del (n.8590_8591del) c.1147_1148del c.80_81del (p.Arg27ThrfsTer7) c.8486_8487del (p.Arg2829ThrfsTer7) | ClinVar dbSNP |
| 13 | g.32371047_32371048insTCCACCT | CA2514116880 | BRCA2 | c.8579_8580insTCCACCT (p.Lys2860AsnfsTer11) c.8210_8211insTCCACCT (p.Lys2737AsnfsTer11) c.1046_1047insTCCACCT (p.Lys349AsnfsTer11) c.8587_8588insTCCACCT (n.8587_8588insTCCACCT) c.1144_1145insTCCACCT c.77_78insTCCACCT (p.Lys26AsnfsTer11) c.8483_8484insTCCACCT (p.Lys2828AsnfsTer11) | |
| 13 | g.32371048G>A | CA483261530 | BRCA2 | c.8580G>A (p.Lys2860=) c.8211G>A (p.Lys2737=) c.1047G>A (p.Lys349=) c.8588G>A (n.8588G>A) c.1145G>A c.78G>A (p.Lys26=) c.8484G>A (p.Lys2828=) | dbSNP |
| 13 | g.32371048G>C | CA387752837 | BRCA2 | c.8580G>C (p.Lys2860Asn) c.8211G>C (p.Lys2737Asn) c.1047G>C (p.Lys349Asn) c.8588G>C (n.8588G>C) c.1145G>C c.78G>C (p.Lys26Asn) c.8484G>C (p.Lys2828Asn) | dbSNP |
| 13 | g.32371048G>T | CA387752838 | BRCA2 | c.8580G>T (p.Lys2860Asn) c.8211G>T (p.Lys2737Asn) c.1047G>T (p.Lys349Asn) c.8588G>T (n.8588G>T) c.1145G>T c.78G>T (p.Lys26Asn) c.8484G>T (p.Lys2828Asn) |