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.32356426_32356798del | CA2499222288 | BRCA2 | c.7436-2_7617+189del c.7067-2_7248+189del n.7436-2_7617+189del c.7340-2_7521+189del | ClinVar dbSNP |
| 13 | g.32356446_32356472delinsAGAATGCCAGAGATATACAGGATATGC | CA2082814115 | BRCA2 | c.7454_7480delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2485=) c.7085_7111delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2362=) c.19_45delinsAGAATGCCAGAGATATACAGGATATGC n.7454_7480delinsAGAATGCCAGAGATATACAGGATATGC c.7358_7384delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2453=) | |
| 13 | g.32356451_32356476del | CA16619762 | BRCA2 | c.7459_7484del (p.Ala2487Ter) c.7090_7115del (p.Ala2364Ter) c.24_49del n.7459_7484del c.7363_7388del (p.Ala2455Ter) | ClinVar dbSNP |
| 13 | g.32356462_32356470del | CA2580614679 | BRCA2 | c.7470_7478del (p.Ile2490_Asp2492del) c.7101_7109del (p.Ile2367_Asp2369del) c.35_43del n.7470_7478del c.7374_7382del (p.Ile2458_Asp2460del) | ClinVar |
| 13 | g.32356464A= | CA2082814263 | BRCA2 | c.7472A= (p.Gln2491=) c.7103A= (p.Gln2368=) c.37A= n.7472A= c.7376A= (p.Gln2459=) | |
| 13 | g.32356464A>C | CA387743228 | BRCA2 | c.7472A>C (p.Gln2491Pro) c.7103A>C (p.Gln2368Pro) c.37A>C n.7472A>C c.7376A>C (p.Gln2459Pro) | |
| 13 | g.32356464A>G | CA247469683 | BRCA2 | c.7472A>G (p.Gln2491Arg) c.7103A>G (p.Gln2368Arg) c.37A>G n.7472A>G c.7376A>G (p.Gln2459Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356464A>T | CA387743232 | BRCA2 | c.7472A>T (p.Gln2491Leu) c.7103A>T (p.Gln2368Leu) c.37A>T n.7472A>T c.7376A>T (p.Gln2459Leu) | ClinVar dbSNP |
| 13 | g.32356465G>A | CA483260370 | BRCA2 | c.7473G>A (p.Gln2491=) c.7104G>A (p.Gln2368=) c.38G>A n.7473G>A c.7377G>A (p.Gln2459=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356465G>C | CA387743234 | BRCA2 | c.7473G>C (p.Gln2491His) c.7104G>C (p.Gln2368His) c.38G>C n.7473G>C c.7377G>C (p.Gln2459His) | ClinVar dbSNP |
| 13 | g.32356465G>T | CA387743236 | BRCA2 | c.7473G>T (p.Gln2491His) c.7104G>T (p.Gln2368His) c.38G>T n.7473G>T c.7377G>T (p.Gln2459His) | dbSNP |
| 13 | g.32356465_32356467delinsGGA | CA2082814270 | BRCA2 | c.7473_7475delinsGGA (p.Gln2491=) c.7104_7106delinsGGA (p.Gln2368=) c.38_40delinsGGA n.7473_7475delinsGGA c.7377_7379delinsGGA (p.Gln2459=) | |
| 13 | g.32356466G>A | CA387743238 | BRCA2 | c.7474G>A (p.Asp2492Asn) c.7105G>A (p.Asp2369Asn) c.39G>A n.7474G>A c.7378G>A (p.Asp2460Asn) | dbSNP |
| 13 | g.32356466G>C | CA387743240 | BRCA2 | c.7474G>C (p.Asp2492His) c.7105G>C (p.Asp2369His) c.39G>C n.7474G>C c.7378G>C (p.Asp2460His) | dbSNP |
| 13 | g.32356466G>T | CA387743245 | BRCA2 | c.7474G>T (p.Asp2492Tyr) c.7105G>T (p.Asp2369Tyr) c.39G>T n.7474G>T c.7378G>T (p.Asp2460Tyr) | |
| 13 | g.32356466_32356467del | CA025107 | BRCA2 | c.7474_7475del (p.Asp2492TyrfsTer4) c.7105_7106del (p.Asp2369TyrfsTer4) c.39_40del n.7474_7475del c.7378_7379del (p.Asp2460TyrfsTer4) | ClinVar dbSNP |
| 13 | g.32356467A>C | CA387743249 | BRCA2 | c.7475A>C (p.Asp2492Ala) c.7106A>C (p.Asp2369Ala) c.40A>C n.7475A>C c.7379A>C (p.Asp2460Ala) | |
| 13 | g.32356467A>G | CA387743250 | BRCA2 | c.7475A>G (p.Asp2492Gly) c.7106A>G (p.Asp2369Gly) c.40A>G n.7475A>G c.7379A>G (p.Asp2460Gly) | |
| 13 | g.32356467A>T | CA387743248 | BRCA2 | c.7475A>T (p.Asp2492Val) c.7106A>T (p.Asp2369Val) c.40A>T n.7475A>T c.7379A>T (p.Asp2460Val) | |
| 13 | g.32356468T>A | CA387743251 | BRCA2 | c.7476T>A (p.Asp2492Glu) c.7107T>A (p.Asp2369Glu) c.41T>A n.7476T>A c.7380T>A (p.Asp2460Glu) | dbSNP |
| 13 | g.32356468T>C | CA483260371 | BRCA2 | c.7476T>C (p.Asp2492=) c.7107T>C (p.Asp2369=) c.41T>C n.7476T>C c.7380T>C (p.Asp2460=) | ClinVar gnomAD v4 |
| 13 | g.32356468T>G | CA387743253 | BRCA2 | c.7476T>G (p.Asp2492Glu) c.7107T>G (p.Asp2369Glu) c.41T>G n.7476T>G c.7380T>G (p.Asp2460Glu) | dbSNP |
| 13 | g.32356469A= | CA2082814287 | BRCA2 | c.7477A= (p.Met2493=) c.7108A= (p.Met2370=) c.42A= n.7477A= c.7381A= (p.Met2461=) | |
| 13 | g.32356469A>C | CA387743256 | BRCA2 | c.7477A>C (p.Met2493Leu) c.7108A>C (p.Met2370Leu) c.42A>C n.7477A>C c.7381A>C (p.Met2461Leu) | |
| 13 | g.32356469A>G | CA16619763 | BRCA2 | c.7477A>G (p.Met2493Val) c.7108A>G (p.Met2370Val) c.42A>G n.7477A>G c.7381A>G (p.Met2461Val) | ClinVar dbSNP |
| 13 | g.32356469A>T | CA387743260 | BRCA2 | c.7477A>T (p.Met2493Leu) c.7108A>T (p.Met2370Leu) c.42A>T n.7477A>T c.7381A>T (p.Met2461Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356470T>A | CA387743264 | BRCA2 | c.7478T>A (p.Met2493Lys) c.7109T>A (p.Met2370Lys) c.43T>A n.7478T>A c.7382T>A (p.Met2461Lys) | dbSNP |
| 13 | g.32356470T>C | CA336705 | BRCA2 | c.7478T>C (p.Met2493Thr) c.7109T>C (p.Met2370Thr) c.43T>C n.7478T>C c.7382T>C (p.Met2461Thr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356470T>G | CA10583131 | BRCA2 | c.7478T>G (p.Met2493Arg) c.7109T>G (p.Met2370Arg) c.43T>G n.7478T>G c.7382T>G (p.Met2461Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356470T= | CA2082814304 | BRCA2 | c.7478T= (p.Met2493=) c.7109T= (p.Met2370=) c.43T= n.7478T= c.7382T= (p.Met2461=) | |
| 13 | g.32356471G>A | CA10577491 | BRCA2 | c.7479G>A (p.Met2493Ile) c.7110G>A (p.Met2370Ile) c.44G>A n.7479G>A c.7383G>A (p.Met2461Ile) | ClinVar dbSNP |
| 13 | g.32356471G>C | CA387743268 | BRCA2 | c.7479G>C (p.Met2493Ile) c.7110G>C (p.Met2370Ile) c.44G>C n.7479G>C c.7383G>C (p.Met2461Ile) | dbSNP |
| 13 | g.32356471G= | CA2082814315 | BRCA2 | c.7479G= (p.Met2493=) c.7110G= (p.Met2370=) c.44G= n.7479G= c.7383G= (p.Met2461=) | |
| 13 | g.32356471G>T | CA387743271 | BRCA2 | c.7479G>T (p.Met2493Ile) c.7110G>T (p.Met2370Ile) c.44G>T n.7479G>T c.7383G>T (p.Met2461Ile) | |
| 13 | g.32356472C>A | CA6941103 | BRCA2 | c.7480C>A (p.Arg2494=) c.7111C>A (p.Arg2371=) c.45C>A n.7480C>A c.7384C>A (p.Arg2462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32356472C= | CA2082814341 | BRCA2 | c.7480C= (p.Arg2494=) c.7111C= (p.Arg2371=) c.45C= n.7480C= c.7384C= (p.Arg2462=) | |
| 13 | g.32356472C>G | CA387743274 | BRCA2 | c.7480C>G (p.Arg2494Gly) c.7111C>G (p.Arg2371Gly) c.45C>G n.7480C>G c.7384C>G (p.Arg2462Gly) | |
| 13 | g.32356472C>T | CA025108 | BRCA2 | c.7480C>T (p.Arg2494Ter) c.7111C>T (p.Arg2371Ter) c.45C>T n.7480C>T c.7384C>T (p.Arg2462Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356473G>A | CA025110 | BRCA2 | c.7481G>A (p.Arg2494Gln) c.7112G>A (p.Arg2371Gln) c.46G>A n.7481G>A c.7385G>A (p.Arg2462Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.32356473G>C | CA387743276 | BRCA2 | c.7481G>C (p.Arg2494Pro) c.7112G>C (p.Arg2371Pro) c.46G>C n.7481G>C c.7385G>C (p.Arg2462Pro) | dbSNP |
| 13 | g.32356473G= | CA2082814345 | BRCA2 | c.7481G= (p.Arg2494=) c.7112G= (p.Arg2371=) c.46G= n.7481G= c.7385G= (p.Arg2462=) | |
| 13 | g.32356473G>T | CA387743275 | BRCA2 | c.7481G>T (p.Arg2494Leu) c.7112G>T (p.Arg2371Leu) c.46G>T n.7481G>T c.7385G>T (p.Arg2462Leu) | dbSNP |
| 13 | g.32356474A= | CA2082814350 | BRCA2 | c.7482A= (p.Arg2494=) c.7113A= (p.Arg2371=) c.47A= n.7482A= c.7386A= (p.Arg2462=) | |
| 13 | g.32356474A>C | CA483260372 | BRCA2 | c.7482A>C (p.Arg2494=) c.7113A>C (p.Arg2371=) c.47A>C n.7482A>C c.7386A>C (p.Arg2462=) | |
| 13 | g.32356474A>G | CA483260373 | BRCA2 | c.7482A>G (p.Arg2494=) c.7113A>G (p.Arg2371=) c.47A>G n.7482A>G c.7386A>G (p.Arg2462=) | |
| 13 | g.32356474A>T | CA483260374 | BRCA2 | c.7482A>T (p.Arg2494=) c.7113A>T (p.Arg2371=) c.47A>T n.7482A>T c.7386A>T (p.Arg2462=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356474_32356475insCC | CA2499222289 | BRCA2 | c.7482_7483insCC (p.Ile2495ProfsTer30) c.7113_7114insCC (p.Ile2372ProfsTer30) c.47_48insCC n.7482_7483insCC c.7386_7387insCC (p.Ile2463ProfsTer30) | |
| 13 | g.32356475A= | CA2082814357 | BRCA2 | c.7483A= (p.Ile2495=) c.7114A= (p.Ile2372=) c.48A= n.7483A= c.7387A= (p.Ile2463=) | |
| 13 | g.32356475A>C | CA387743279 | BRCA2 | c.7483A>C (p.Ile2495Leu) c.7114A>C (p.Ile2372Leu) c.48A>C n.7483A>C c.7387A>C (p.Ile2463Leu) | dbSNP |
| 13 | g.32356475A>G | CA247469723 | BRCA2 | c.7483A>G (p.Ile2495Val) c.7114A>G (p.Ile2372Val) c.48A>G n.7483A>G c.7387A>G (p.Ile2463Val) | dbSNP |