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.32370954_32370957delinsAGTG | CA2082815232 | BRCA2 | c.8488-2_8489delinsAGTG c.8119-2_8120delinsAGTG c.955-2_956delinsAGTG c.8496-2_8497delinsAGTG c.1053-2_1054delinsAGTG c.8392-2_8393delinsAGTG | |
| 13 | g.32370954_32370964delinsAGTGGATGGAG | CA2082815234 | BRCA2 | c.8488-2_8496delinsAGTGGATGGAG c.8119-2_8127delinsAGTGGATGGAG c.955-2_963delinsAGTGGATGGAG c.8496-2_8504delinsAGTGGATGGAG c.1053-2_1061delinsAGTGGATGGAG c.8392-2_8400delinsAGTGGATGGAG | |
| 13 | g.32370955G>A | CA025677 | BRCA2 | c.8488-1G>A (n.8488-1G>A) c.8119-1G>A (n.8119-1G>A) c.955-1G>A (n.955-1G>A) c.8496-1G>A (n.8496-1G>A) c.1053-1G>A c.8392-1G>A (n.8392-1G>A) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32370955G>C | CA387752654 | BRCA2 | c.8488-1G>C (n.8488-1G>C) c.8119-1G>C (n.8119-1G>C) c.955-1G>C (n.955-1G>C) c.8496-1G>C (n.8496-1G>C) c.1053-1G>C c.8392-1G>C (n.8392-1G>C) | ClinVar dbSNP |
| 13 | g.32370955G= | CA2082815246 | BRCA2 | c.8488-1G= (n.8488-1G=) c.8119-1G= (n.8119-1G=) c.955-1G= (n.955-1G=) c.8496-1G= (n.8496-1G=) c.1053-1G= c.8392-1G= (n.8392-1G=) | |
| 13 | g.32370955G>T | CA10602549 | BRCA2 | c.8488-1G>T (n.8488-1G>T) c.8119-1G>T (n.8119-1G>T) c.955-1G>T (n.955-1G>T) c.8496-1G>T (n.8496-1G>T) c.1053-1G>T c.8392-1G>T (n.8392-1G>T) | ClinVar dbSNP |
| 13 | g.32370955_32370957delinsTCCATTACA | CA913190914 | BRCA2 | c.8488-1_8489delinsTCCATTACA c.8119-1_8120delinsTCCATTACA c.955-1_956delinsTCCATTACA c.8496-1_8497delinsTCCATTACA c.1053-1_1054delinsTCCATTACA c.8392-1_8393delinsTCCATTACA | ClinVar dbSNP |
| 13 | g.32370956_32370957del | CA10586590 | BRCA2 | c.8488_8489del c.8119_8120del c.955_956del c.8496_8497del c.1053_1054del c.8392_8393del | ClinVar dbSNP |
| 13 | g.32370955_32370964delinsCT | CA658656379 | BRCA2 | c.8488-1_8496delinsCT c.8119-1_8127delinsCT c.955-1_963delinsCT c.8496-1_8504delinsCT c.1053-1_1061delinsCT c.8392-1_8400delinsCT | ClinVar dbSNP |
| 13 | g.32370956T>A | CA387752655 | BRCA2 | c.8488T>A (p.Trp2830Arg) c.8119T>A (p.Trp2707Arg) c.955T>A (p.Trp319Arg) c.8496T>A (n.8496T>A) c.1053T>A c.8392T>A (p.Trp2798Arg) | ClinVar dbSNP |
| 13 | g.32370956T>C | CA387752656 | BRCA2 | c.8488T>C (p.Trp2830Arg) c.8119T>C (p.Trp2707Arg) c.955T>C (p.Trp319Arg) c.8496T>C (n.8496T>C) c.1053T>C c.8392T>C (p.Trp2798Arg) | ClinVar dbSNP |
| 13 | g.32370956T>G | CA387752657 | BRCA2 | c.8488T>G (p.Trp2830Gly) c.8119T>G (p.Trp2707Gly) c.955T>G (p.Trp319Gly) c.8496T>G (n.8496T>G) c.1053T>G c.8392T>G (p.Trp2798Gly) | gnomAD v4 |
| 13 | g.32370956T= | CA2082815262 | BRCA2 | c.8488T= (p.Trp2830=) c.8119T= (p.Trp2707=) c.955T= (p.Trp319=) c.8496T= (n.8496T=) c.1053T= c.8392T= (p.Trp2798=) | |
| 13 | g.32370957G>A | CA025679 | BRCA2 | c.8489G>A (p.Trp2830Ter) c.8120G>A (p.Trp2707Ter) c.956G>A (p.Trp319Ter) c.8497G>A (n.8497G>A) c.1054G>A c.8393G>A (p.Trp2798Ter) | ClinVar dbSNP |
| 13 | g.32370957G>C | CA387752658 | BRCA2 | c.8489G>C (p.Trp2830Ser) c.8120G>C (p.Trp2707Ser) c.956G>C (p.Trp319Ser) c.8497G>C (n.8497G>C) c.1054G>C c.8393G>C (p.Trp2798Ser) | ClinVar dbSNP |
| 13 | g.32370957G= | CA2082815276 | BRCA2 | c.8489G= (p.Trp2830=) c.8120G= (p.Trp2707=) c.956G= (p.Trp319=) c.8497G= (n.8497G=) c.1054G= c.8393G= (p.Trp2798=) | |
| 13 | g.32370957G>T | CA387752659 | BRCA2 | c.8489G>T (p.Trp2830Leu) c.8120G>T (p.Trp2707Leu) c.956G>T (p.Trp319Leu) c.8497G>T (n.8497G>T) c.1054G>T c.8393G>T (p.Trp2798Leu) | dbSNP |
| 13 | g.32370958G>A | CA025681 | BRCA2 | c.8490G>A (p.Trp2830Ter) c.8121G>A (p.Trp2707Ter) c.957G>A (p.Trp319Ter) c.8498G>A (n.8498G>A) c.1055G>A c.8394G>A (p.Trp2798Ter) | ClinVar dbSNP |
| 13 | g.32370958G>C | CA387752660 | BRCA2 | c.8490G>C (p.Trp2830Cys) c.8121G>C (p.Trp2707Cys) c.957G>C (p.Trp319Cys) c.8498G>C (n.8498G>C) c.1055G>C c.8394G>C (p.Trp2798Cys) | dbSNP |
| 13 | g.32370958G= | CA2082815282 | BRCA2 | c.8490G= (p.Trp2830=) c.8121G= (p.Trp2707=) c.957G= (p.Trp319=) c.8498G= (n.8498G=) c.1055G= c.8394G= (p.Trp2798=) | |
| 13 | g.32370958G>T | CA387752661 | BRCA2 | c.8490G>T (p.Trp2830Cys) c.8121G>T (p.Trp2707Cys) c.957G>T (p.Trp319Cys) c.8498G>T (n.8498G>T) c.1055G>T c.8394G>T (p.Trp2798Cys) | dbSNP |
| 13 | g.32370959A= | CA2082815293 | BRCA2 | c.8491A= (p.Met2831=) c.8122A= (p.Met2708=) c.958A= (p.Met320=) c.8499A= (n.8499A=) c.1056A= c.8395A= (p.Met2799=) | |
| 13 | g.32370959A>C | CA387752662 | BRCA2 | c.8491A>C (p.Met2831Leu) c.8122A>C (p.Met2708Leu) c.958A>C (p.Met320Leu) c.8499A>C (n.8499A>C) c.1056A>C c.8395A>C (p.Met2799Leu) | |
| 13 | g.32370959A>G | CA6941252 | BRCA2 | c.8491A>G (p.Met2831Val) c.8122A>G (p.Met2708Val) c.958A>G (p.Met320Val) c.8499A>G (n.8499A>G) c.1056A>G c.8395A>G (p.Met2799Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32370959A>T | CA387752663 | BRCA2 | c.8491A>T (p.Met2831Leu) c.8122A>T (p.Met2708Leu) c.958A>T (p.Met320Leu) c.8499A>T (n.8499A>T) c.1056A>T c.8395A>T (p.Met2799Leu) | ClinVar dbSNP |
| 13 | g.32370960T>A | CA387752664 | BRCA2 | c.8492T>A (p.Met2831Lys) c.8123T>A (p.Met2708Lys) c.959T>A (p.Met320Lys) c.8500T>A (n.8500T>A) c.1057T>A c.8396T>A (p.Met2799Lys) | |
| 13 | g.32370960T>C | CA387752665 | BRCA2 | c.8492T>C (p.Met2831Thr) c.8123T>C (p.Met2708Thr) c.959T>C (p.Met320Thr) c.8500T>C (n.8500T>C) c.1057T>C c.8396T>C (p.Met2799Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32370960T>G | CA387752666 | BRCA2 | c.8492T>G (p.Met2831Arg) c.8123T>G (p.Met2708Arg) c.959T>G (p.Met320Arg) c.8500T>G (n.8500T>G) c.1057T>G c.8396T>G (p.Met2799Arg) | ClinVar dbSNP |
| 13 | g.32370960T= | CA2082815298 | BRCA2 | c.8492T= (p.Met2831=) c.8123T= (p.Met2708=) c.959T= (p.Met320=) c.8500T= (n.8500T=) c.1057T= c.8396T= (p.Met2799=) | |
| 13 | g.32370961G>A | CA387752667 | BRCA2 | c.8493G>A (p.Met2831Ile) c.8124G>A (p.Met2708Ile) c.960G>A (p.Met320Ile) c.8501G>A (n.8501G>A) c.1058G>A c.8397G>A (p.Met2799Ile) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32370961G>C | CA387752668 | BRCA2 | c.8493G>C (p.Met2831Ile) c.8124G>C (p.Met2708Ile) c.960G>C (p.Met320Ile) c.8501G>C (n.8501G>C) c.1058G>C c.8397G>C (p.Met2799Ile) | dbSNP |
| 13 | g.32370961G>T | CA387752669 | BRCA2 | c.8493G>T (p.Met2831Ile) c.8124G>T (p.Met2708Ile) c.960G>T (p.Met320Ile) c.8501G>T (n.8501G>T) c.1058G>T c.8397G>T (p.Met2799Ile) | dbSNP |
| 13 | g.32370962G>A | CA387752670 | BRCA2 | c.8494G>A (p.Glu2832Lys) c.8125G>A (p.Glu2709Lys) c.961G>A (p.Glu321Lys) c.8502G>A (n.8502G>A) c.1059G>A c.8398G>A (p.Glu2800Lys) | ClinVar dbSNP |
| 13 | g.32370962G>C | CA10579790 | BRCA2 | c.8494G>C (p.Glu2832Gln) c.8125G>C (p.Glu2709Gln) c.961G>C (p.Glu321Gln) c.8502G>C (n.8502G>C) c.1059G>C c.8398G>C (p.Glu2800Gln) | ClinVar dbSNP |
| 13 | g.32370962G= | CA2082815310 | BRCA2 | c.8494G= (p.Glu2832=) c.8125G= (p.Glu2709=) c.961G= (p.Glu321=) c.8502G= (n.8502G=) c.1059G= c.8398G= (p.Glu2800=) | |
| 13 | g.32370962G>T | CA387752671 | BRCA2 | c.8494G>T (p.Glu2832Ter) c.8125G>T (p.Glu2709Ter) c.961G>T (p.Glu321Ter) c.8502G>T (n.8502G>T) c.1059G>T c.8398G>T (p.Glu2800Ter) | ClinVar dbSNP |
| 13 | g.32370963A= | CA2082815323 | BRCA2 | c.8495A= (p.Glu2832=) c.8126A= (p.Glu2709=) c.962A= (p.Glu321=) c.8503A= (n.8503A=) c.1060A= c.8399A= (p.Glu2800=) | |
| 13 | g.32370963A>C | CA387752672 | BRCA2 | c.8495A>C (p.Glu2832Ala) c.8126A>C (p.Glu2709Ala) c.962A>C (p.Glu321Ala) c.8503A>C (n.8503A>C) c.1060A>C c.8399A>C (p.Glu2800Ala) | |
| 13 | g.32370963A>G | CA6941253 | BRCA2 | c.8495A>G (p.Glu2832Gly) c.8126A>G (p.Glu2709Gly) c.962A>G (p.Glu321Gly) c.8503A>G (n.8503A>G) c.1060A>G c.8399A>G (p.Glu2800Gly) | dbSNP ExAC gnomAD v2 |
| 13 | g.32370963A>T | CA387752673 | BRCA2 | c.8495A>T (p.Glu2832Val) c.8126A>T (p.Glu2709Val) c.962A>T (p.Glu321Val) c.8503A>T (n.8503A>T) c.1060A>T c.8399A>T (p.Glu2800Val) | dbSNP |
| 13 | g.32370964G>A | CA483261493 | BRCA2 | c.8496G>A (p.Glu2832=) c.8127G>A (p.Glu2709=) c.963G>A (p.Glu321=) c.8504G>A (n.8504G>A) c.1061G>A c.8400G>A (p.Glu2800=) | dbSNP |
| 13 | g.32370964G>C | CA387752674 | BRCA2 | c.8496G>C (p.Glu2832Asp) c.8127G>C (p.Glu2709Asp) c.963G>C (p.Glu321Asp) c.8504G>C (n.8504G>C) c.1061G>C c.8400G>C (p.Glu2800Asp) | dbSNP |
| 13 | g.32370964G>T | CA387752675 | BRCA2 | c.8496G>T (p.Glu2832Asp) c.8127G>T (p.Glu2709Asp) c.963G>T (p.Glu321Asp) c.8504G>T (n.8504G>T) c.1061G>T c.8400G>T (p.Glu2800Asp) | dbSNP |
| 13 | g.32370965A= | CA2082815338 | BRCA2 | c.8497A= (p.Lys2833=) c.8128A= (p.Lys2710=) c.964A= (p.Lys322=) c.8505A= (n.8505A=) c.1062A= c.8401A= (p.Lys2801=) | |
| 13 | g.32370965A>C | CA387752676 | BRCA2 | c.8497A>C (p.Lys2833Gln) c.8128A>C (p.Lys2710Gln) c.964A>C (p.Lys322Gln) c.8505A>C (n.8505A>C) c.1062A>C c.8401A>C (p.Lys2801Gln) | dbSNP |
| 13 | g.32370965A>G | CA387752677 | BRCA2 | c.8497A>G (p.Lys2833Glu) c.8128A>G (p.Lys2710Glu) c.964A>G (p.Lys322Glu) c.8505A>G (n.8505A>G) c.1062A>G c.8401A>G (p.Lys2801Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32370965A>T | CA387752678 | BRCA2 | c.8497A>T (p.Lys2833Ter) c.8128A>T (p.Lys2710Ter) c.964A>T (p.Lys322Ter) c.8505A>T (n.8505A>T) c.1062A>T c.8401A>T (p.Lys2801Ter) | ClinVar dbSNP |
| 13 | g.32370966A>C | CA387752679 | BRCA2 | c.8498A>C (p.Lys2833Thr) c.8129A>C (p.Lys2710Thr) c.965A>C (p.Lys322Thr) c.8506A>C (n.8506A>C) c.1063A>C c.8402A>C (p.Lys2801Thr) | ClinVar |