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.32356502_32356793del | CA2580087468 | BRCA2 | c.7510_7617+184del c.7141_7248+184del c.75_182+184del n.7510_7617+184del c.7414_7521+184del | ClinVar |
| 13 | g.32356527T>A | CA387743605 | BRCA2 | c.7535T>A (p.Leu2512His) c.7166T>A (p.Leu2389His) c.2T>A (p.Leu1His) c.100T>A n.7535T>A c.7439T>A (p.Leu2480His) | dbSNP |
| 13 | g.32356527T>C | CA387743607 | BRCA2 | c.7535T>C (p.Leu2512Pro) c.7166T>C (p.Leu2389Pro) c.2T>C (p.Leu1Pro) c.100T>C n.7535T>C c.7439T>C (p.Leu2480Pro) | ClinVar dbSNP |
| 13 | g.32356527T>G | CA387743610 | BRCA2 | c.7535T>G (p.Leu2512Arg) c.7166T>G (p.Leu2389Arg) c.2T>G (p.Leu1Arg) c.100T>G n.7535T>G c.7439T>G (p.Leu2480Arg) | |
| 13 | g.32356527T= | CA2082814894 | BRCA2 | c.7535T= (p.Leu2512=) c.7166T= (p.Leu2389=) c.2T= (p.Leu1=) c.100T= n.7535T= c.7439T= (p.Leu2480=) | |
| 13 | g.32356528T>A | CA483260398 | BRCA2 | c.7536T>A (p.Leu2512=) c.7167T>A (p.Leu2389=) c.3T>A (p.Leu1=) c.101T>A n.7536T>A c.7440T>A (p.Leu2480=) | dbSNP |
| 13 | g.32356528T>C | CA483260399 | BRCA2 | c.7536T>C (p.Leu2512=) c.7167T>C (p.Leu2389=) c.3T>C (p.Leu1=) c.101T>C n.7536T>C c.7440T>C (p.Leu2480=) | ClinVar dbSNP |
| 13 | g.32356528T>G | CA483260400 | BRCA2 | c.7536T>G (p.Leu2512=) c.7167T>G (p.Leu2389=) c.3T>G (p.Leu1=) c.101T>G n.7536T>G c.7440T>G (p.Leu2480=) | ClinVar |
| 13 | g.32356528T= | CA2082814904 | BRCA2 | c.7536T= (p.Leu2512=) c.7167T= (p.Leu2389=) c.3T= (p.Leu1=) c.101T= n.7536T= c.7440T= (p.Leu2480=) | |
| 13 | g.32356529G>A | CA387743615 | BRCA2 | c.7537G>A (p.Ala2513Thr) c.7168G>A (p.Ala2390Thr) c.4G>A (p.Ala2Thr) c.102G>A n.7537G>A c.7441G>A (p.Ala2481Thr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356529G>C | CA387743613 | BRCA2 | c.7537G>C (p.Ala2513Pro) c.7168G>C (p.Ala2390Pro) c.4G>C (p.Ala2Pro) c.102G>C n.7537G>C c.7441G>C (p.Ala2481Pro) | dbSNP gnomAD v4 |
| 13 | g.32356529G= | CA2082814916 | BRCA2 | c.7537G= (p.Ala2513=) c.7168G= (p.Ala2390=) c.4G= (p.Ala2=) c.102G= n.7537G= c.7441G= (p.Ala2481=) | |
| 13 | g.32356529G>T | CA387743612 | BRCA2 | c.7537G>T (p.Ala2513Ser) c.7168G>T (p.Ala2390Ser) c.4G>T (p.Ala2Ser) c.102G>T n.7537G>T c.7441G>T (p.Ala2481Ser) | |
| 13 | g.32356529_32356530delinsGC | CA2082814921 | BRCA2 | c.7537_7538delinsGC (p.Ala2513=) c.7168_7169delinsGC (p.Ala2390=) c.4_5delinsGC (p.Ala2=) c.102_103delinsGC n.7537_7538delinsGC c.7441_7442delinsGC (p.Ala2481=) | |
| 13 | g.32356529_32356539delinsGCAAAAACATC | CA2082814910 | BRCA2 | c.7537_7547delinsGCAAAAACATC (p.Ala2513=) c.7168_7178delinsGCAAAAACATC (p.Ala2390=) c.4_14delinsGCAAAAACATC (p.Ala2=) c.102_112delinsGCAAAAACATC n.7537_7547delinsGCAAAAACATC c.7441_7451delinsGCAAAAACATC (p.Ala2481=) | |
| 13 | g.32356529_32356545delinsGCAAAAACATCCACTCT | CA2082814908 | BRCA2 | c.7537_7553delinsGCAAAAACATCCACTCT (p.Ala2513=) c.7168_7184delinsGCAAAAACATCCACTCT (p.Ala2390=) c.4_20delinsGCAAAAACATCCACTCT (p.Ala2=) c.102_118delinsGCAAAAACATCCACTCT n.7537_7553delinsGCAAAAACATCCACTCT c.7441_7457delinsGCAAAAACATCCACTCT (p.Ala2481=) | |
| 13 | g.32356530del | CA025137 | BRCA2 | c.7538del (p.Ala2513GlufsTer11) c.7169del (p.Ala2390GlufsTer11) c.5del (p.Ala2GlufsTer11) c.103del n.7538del c.7442del (p.Ala2481GlufsTer11) | ClinVar dbSNP |
| 13 | g.32356530C>A | CA16614004 | BRCA2 | c.7538C>A (p.Ala2513Glu) c.7169C>A (p.Ala2390Glu) c.5C>A (p.Ala2Glu) c.103C>A n.7538C>A c.7442C>A (p.Ala2481Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356530C= | CA2082814933 | BRCA2 | c.7538C= (p.Ala2513=) c.7169C= (p.Ala2390=) c.5C= (p.Ala2=) c.103C= n.7538C= c.7442C= (p.Ala2481=) | |
| 13 | g.32356530C>G | CA387743618 | BRCA2 | c.7538C>G (p.Ala2513Gly) c.7169C>G (p.Ala2390Gly) c.5C>G (p.Ala2Gly) c.103C>G n.7538C>G c.7442C>G (p.Ala2481Gly) | |
| 13 | g.32356530C>T | CA387743619 | BRCA2 | c.7538C>T (p.Ala2513Val) c.7169C>T (p.Ala2390Val) c.5C>T (p.Ala2Val) c.103C>T n.7538C>T c.7442C>T (p.Ala2481Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356530_32356531delinsCA | CA2082814931 | BRCA2 | c.7538_7539delinsCA (p.Ala2513=) c.7169_7170delinsCA (p.Ala2390=) c.5_6delinsCA (p.Ala2=) c.103_104delinsCA n.7538_7539delinsCA c.7442_7443delinsCA (p.Ala2481=) | |
| 13 | g.32356532_32356541del | CA915946870 | BRCA2 | c.7540_7549del (p.Lys2514LeufsTer7) c.7171_7180del (p.Lys2391LeufsTer7) c.7_16del (p.Lys3LeufsTer7) c.105_114del n.7540_7549del c.7444_7453del (p.Lys2482LeufsTer7) | ClinVar dbSNP |
| 13 | g.32356530_32356545del | CA919242758 | BRCA2 | c.7538_7553del (p.Ala2513GlyfsTer6) c.7169_7184del (p.Ala2390GlyfsTer6) c.5_20del (p.Ala2GlyfsTer6) c.103_118del n.7538_7553del c.7442_7457del (p.Ala2481GlyfsTer6) | dbSNP |
| 13 | g.32356531A= | CA2082814947 | BRCA2 | c.7539A= (p.Ala2513=) c.7170A= (p.Ala2390=) c.6A= (p.Ala2=) c.104A= n.7539A= c.7443A= (p.Ala2481=) | |
| 13 | g.32356531A>C | CA483260401 | BRCA2 | c.7539A>C (p.Ala2513=) c.7170A>C (p.Ala2390=) c.6A>C (p.Ala2=) c.104A>C n.7539A>C c.7443A>C (p.Ala2481=) | |
| 13 | g.32356531A>G | CA483260402 | BRCA2 | c.7539A>G (p.Ala2513=) c.7170A>G (p.Ala2390=) c.6A>G (p.Ala2=) c.104A>G n.7539A>G c.7443A>G (p.Ala2481=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356531A>T | CA483260403 | BRCA2 | c.7539A>T (p.Ala2513=) c.7170A>T (p.Ala2390=) c.6A>T (p.Ala2=) c.104A>T n.7539A>T c.7443A>T (p.Ala2481=) | dbSNP |
| 13 | g.32356535dup | CA025138 | BRCA2 | c.7543dup (p.Thr2515AsnfsTer24) c.7174dup (p.Thr2392AsnfsTer24) c.10dup (p.Thr4AsnfsTer24) c.108dup n.7543dup c.7447dup (p.Thr2483AsnfsTer24) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32356535del | CA025139 | BRCA2 | c.7543del (p.Thr2515HisfsTer9) c.7174del (p.Thr2392HisfsTer9) c.10del (p.Thr4HisfsTer9) c.108del n.7543del c.7447del (p.Thr2483HisfsTer9) | ClinVar dbSNP |
| 13 | g.32356532A= | CA2082814954 | BRCA2 | c.7540A= (p.Lys2514=) c.7171A= (p.Lys2391=) c.7A= (p.Lys3=) c.105A= n.7540A= c.7444A= (p.Lys2482=) | |
| 13 | g.32356532A>C | CA387743623 | BRCA2 | c.7540A>C (p.Lys2514Gln) c.7171A>C (p.Lys2391Gln) c.7A>C (p.Lys3Gln) c.105A>C n.7540A>C c.7444A>C (p.Lys2482Gln) | dbSNP |
| 13 | g.32356532A>G | CA348259 | BRCA2 | c.7540A>G (p.Lys2514Glu) c.7171A>G (p.Lys2391Glu) c.7A>G (p.Lys3Glu) c.105A>G n.7540A>G c.7444A>G (p.Lys2482Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32356532A>T | CA387743626 | BRCA2 | c.7540A>T (p.Lys2514Ter) c.7171A>T (p.Lys2391Ter) c.7A>T (p.Lys3Ter) c.105A>T n.7540A>T c.7444A>T (p.Lys2482Ter) | dbSNP |
| 13 | g.32356533A= | CA2082814967 | BRCA2 | c.7541A= (p.Lys2514=) c.7172A= (p.Lys2391=) c.8A= (p.Lys3=) c.106A= n.7541A= c.7445A= (p.Lys2482=) | |
| 13 | g.32356533A>C | CA387743633 | BRCA2 | c.7541A>C (p.Lys2514Thr) c.7172A>C (p.Lys2391Thr) c.8A>C (p.Lys3Thr) c.106A>C n.7541A>C c.7445A>C (p.Lys2482Thr) | ClinVar dbSNP |
| 13 | g.32356533A>G | CA387743629 | BRCA2 | c.7541A>G (p.Lys2514Arg) c.7172A>G (p.Lys2391Arg) c.8A>G (p.Lys3Arg) c.106A>G n.7541A>G c.7445A>G (p.Lys2482Arg) | |
| 13 | g.32356533A>T | CA387743631 | BRCA2 | c.7541A>T (p.Lys2514Ile) c.7172A>T (p.Lys2391Ile) c.8A>T (p.Lys3Ile) c.106A>T n.7541A>T c.7445A>T (p.Lys2482Ile) | |
| 13 | g.32356534_32356541dup | CA2499222294 | BRCA2 | c.7542_7549dup (p.Thr2517LysfsTer10) c.7173_7180dup (p.Thr2394LysfsTer10) c.9_16dup (p.Thr6LysfsTer10) c.107_114dup n.7542_7549dup c.7446_7453dup (p.Thr2485LysfsTer10) | ClinVar dbSNP |
| 13 | g.32356534A>C | CA387743635 | BRCA2 | c.7542A>C (p.Lys2514Asn) c.7173A>C (p.Lys2391Asn) c.9A>C (p.Lys3Asn) c.107A>C n.7542A>C c.7446A>C (p.Lys2482Asn) | ClinVar |
| 13 | g.32356534A>G | CA483260404 | BRCA2 | c.7542A>G (p.Lys2514=) c.7173A>G (p.Lys2391=) c.9A>G (p.Lys3=) c.107A>G n.7542A>G c.7446A>G (p.Lys2482=) | |
| 13 | g.32356534A>T | CA387743637 | BRCA2 | c.7542A>T (p.Lys2514Asn) c.7173A>T (p.Lys2391Asn) c.9A>T (p.Lys3Asn) c.107A>T n.7542A>T c.7446A>T (p.Lys2482Asn) | dbSNP |
| 13 | g.32356535A= | CA2082814976 | BRCA2 | c.7543A= (p.Thr2515=) c.7174A= (p.Thr2392=) c.10A= (p.Thr4=) c.108A= n.7543A= c.7447A= (p.Thr2483=) | |
| 13 | g.32356535A>C | CA387743640 | BRCA2 | c.7543A>C (p.Thr2515Pro) c.7174A>C (p.Thr2392Pro) c.10A>C (p.Thr4Pro) c.108A>C n.7543A>C c.7447A>C (p.Thr2483Pro) | dbSNP gnomAD v2 |
| 13 | g.32356535A>G | CA387743642 | BRCA2 | c.7543A>G (p.Thr2515Ala) c.7174A>G (p.Thr2392Ala) c.10A>G (p.Thr4Ala) c.108A>G n.7543A>G c.7447A>G (p.Thr2483Ala) | |
| 13 | g.32356535A>T | CA387743645 | BRCA2 | c.7543A>T (p.Thr2515Ser) c.7174A>T (p.Thr2392Ser) c.10A>T (p.Thr4Ser) c.108A>T n.7543A>T c.7447A>T (p.Thr2483Ser) | ClinVar dbSNP |
| 13 | g.32356535_32356536delinsAC | CA2082814971 | BRCA2 | c.7543_7544delinsAC (p.Thr2515=) c.7174_7175delinsAC (p.Thr2392=) c.10_11delinsAC (p.Thr4=) c.108_109delinsAC n.7543_7544delinsAC c.7447_7448delinsAC (p.Thr2483=) | |
| 13 | g.32356536del | CA025141 | BRCA2 | c.7544del (p.Thr2515AsnfsTer9) c.7175del (p.Thr2392AsnfsTer9) c.11del (p.Thr4AsnfsTer9) c.109del n.7544del c.7448del (p.Thr2483AsnfsTer9) | ClinVar dbSNP |
| 13 | g.32356536C>A | CA387743648 | BRCA2 | c.7544C>A (p.Thr2515Lys) c.7175C>A (p.Thr2392Lys) c.11C>A (p.Thr4Lys) c.109C>A n.7544C>A c.7448C>A (p.Thr2483Lys) | dbSNP |