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.32336348_32336352del | CA2695217990 | BRCA2 | c.1993_1997del (p.Thr665SerfsTer6) c.1624_1628del (p.Thr542SerfsTer6) n.1993_1997del | |
| 13 | g.32336351A= | CA2082748552 | BRCA2 | c.1996A= (p.Ile666=) c.1627A= (p.Ile543=) n.1996A= | |
| 13 | g.32336351A>C | CA387768676 | BRCA2 | c.1996A>C (p.Ile666Leu) c.1627A>C (p.Ile543Leu) n.1996A>C | ClinVar COSMIC COSMIC |
| 13 | g.32336351A>G | CA348838 | BRCA2 | c.1996A>G (p.Ile666Val) c.1627A>G (p.Ile543Val) n.1996A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336351A>T | CA387768679 | BRCA2 | c.1996A>T (p.Ile666Phe) c.1627A>T (p.Ile543Phe) n.1996A>T | dbSNP |
| 13 | g.32336352T>A | CA387768681 | BRCA2 | c.1997T>A (p.Ile666Asn) c.1628T>A (p.Ile543Asn) n.1997T>A | dbSNP |
| 13 | g.32336352T>C | CA387768686 | BRCA2 | c.1997T>C (p.Ile666Thr) c.1628T>C (p.Ile543Thr) n.1997T>C | |
| 13 | g.32336352T>G | CA387768689 | BRCA2 | c.1997T>G (p.Ile666Ser) c.1628T>G (p.Ile543Ser) n.1997T>G | |
| 13 | g.32336353T>A | CA483274987 | BRCA2 | c.1998T>A (p.Ile666=) c.1629T>A (p.Ile543=) n.1998T>A | |
| 13 | g.32336353T>C | CA483274989 | BRCA2 | c.1998T>C (p.Ile666=) c.1629T>C (p.Ile543=) n.1998T>C | dbSNP |
| 13 | g.32336353T>G | CA387768690 | BRCA2 | c.1998T>G (p.Ile666Met) c.1629T>G (p.Ile543Met) n.1998T>G | |
| 13 | g.32336354C>A | CA387768692 | BRCA2 | c.1999C>A (p.Leu667Met) c.1630C>A (p.Leu544Met) n.1999C>A | dbSNP |
| 13 | g.32336354C>G | CA387768693 | BRCA2 | c.1999C>G (p.Leu667Val) c.1630C>G (p.Leu544Val) n.1999C>G | dbSNP |
| 13 | g.32336354C>T | CA483274990 | BRCA2 | c.1999C>T (p.Leu667=) c.1630C>T (p.Leu544=) n.1999C>T | dbSNP gnomAD v4 |
| 13 | g.32336355T>A | CA387768695 | BRCA2 | c.2000T>A (p.Leu667Gln) c.1631T>A (p.Leu544Gln) n.2000T>A | |
| 13 | g.32336355T>C | CA387768696 | BRCA2 | c.2000T>C (p.Leu667Pro) c.1631T>C (p.Leu544Pro) n.2000T>C | ClinVar dbSNP |
| 13 | g.32336355T>G | CA387768699 | BRCA2 | c.2000T>G (p.Leu667Arg) c.1631T>G (p.Leu544Arg) n.2000T>G | |
| 13 | g.32336355T= | CA2082748561 | BRCA2 | c.2000T= (p.Leu667=) c.1631T= (p.Leu544=) n.2000T= | |
| 13 | g.32336356G>A | CA483274995 | BRCA2 | c.2001G>A (p.Leu667=) c.1632G>A (p.Leu544=) n.2001G>A | ClinVar dbSNP |
| 13 | g.32336356G>C | CA483274996 | BRCA2 | c.2001G>C (p.Leu667=) c.1632G>C (p.Leu544=) n.2001G>C | ClinVar dbSNP |
| 13 | g.32336356G= | CA2082748567 | BRCA2 | c.2001G= (p.Leu667=) c.1632G= (p.Leu544=) n.2001G= | |
| 13 | g.32336356G>T | CA483274997 | BRCA2 | c.2001G>T (p.Leu667=) c.1632G>T (p.Leu544=) n.2001G>T | |
| 13 | g.32336357A>C | CA483274998 | BRCA2 | c.2002A>C (p.Arg668=) c.1633A>C (p.Arg545=) n.2002A>C | ClinVar dbSNP |
| 13 | g.32336357A>G | CA387768702 | BRCA2 | c.2002A>G (p.Arg668Gly) c.1633A>G (p.Arg545Gly) n.2002A>G | dbSNP |
| 13 | g.32336357A>T | CA387768708 | BRCA2 | c.2002A>T (p.Arg668Trp) c.1633A>T (p.Arg545Trp) n.2002A>T | dbSNP |
| 13 | g.32336358G>A | CA014104 | BRCA2 | c.2003G>A (p.Arg668Lys) c.1634G>A (p.Arg545Lys) n.2003G>A | ClinVar dbSNP |
| 13 | g.32336358G>C | CA387768709 | BRCA2 | c.2003G>C (p.Arg668Thr) c.1634G>C (p.Arg545Thr) n.2003G>C | |
| 13 | g.32336358G= | CA2082748577 | BRCA2 | c.2003G= (p.Arg668=) c.1634G= (p.Arg545=) n.2003G= | |
| 13 | g.32336358G>T | CA387768711 | BRCA2 | c.2003G>T (p.Arg668Met) c.1634G>T (p.Arg545Met) n.2003G>T | |
| 13 | g.32336359del | CA2499222097 | BRCA2 | c.2004del (p.Lys669AsnfsTer13) c.1635del (p.Lys546AsnfsTer13) n.2004del | |
| 13 | g.32336359G>A | CA014114 | BRCA2 | c.2004G>A (p.Arg668=) c.1635G>A (p.Arg545=) n.2004G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336359G>C | CA387768713 | BRCA2 | c.2004G>C (p.Arg668Ser) c.1635G>C (p.Arg545Ser) n.2004G>C | dbSNP |
| 13 | g.32336359G= | CA2082748583 | BRCA2 | c.2004G= (p.Arg668=) c.1635G= (p.Arg545=) n.2004G= | |
| 13 | g.32336359G>T | CA387768714 | BRCA2 | c.2004G>T (p.Arg668Ser) c.1635G>T (p.Arg545Ser) n.2004G>T | dbSNP |
| 13 | g.32336360A>C | CA387768724 | BRCA2 | c.2005A>C (p.Lys669Gln) c.1636A>C (p.Lys546Gln) n.2005A>C | |
| 13 | g.32336360A>G | CA387768717 | BRCA2 | c.2005A>G (p.Lys669Glu) c.1636A>G (p.Lys546Glu) n.2005A>G | |
| 13 | g.32336360A>T | CA387768715 | BRCA2 | c.2005A>T (p.Lys669Ter) c.1636A>T (p.Lys546Ter) n.2005A>T | |
| 13 | g.32336361A>C | CA387768726 | BRCA2 | c.2006A>C (p.Lys669Thr) c.1637A>C (p.Lys546Thr) n.2006A>C | |
| 13 | g.32336361A>G | CA387768731 | BRCA2 | c.2006A>G (p.Lys669Arg) c.1637A>G (p.Lys546Arg) n.2006A>G | gnomAD v4 |
| 13 | g.32336361A>T | CA387768733 | BRCA2 | c.2006A>T (p.Lys669Ile) c.1637A>T (p.Lys546Ile) n.2006A>T | dbSNP |
| 13 | g.32336362A>C | CA387768734 | BRCA2 | c.2007A>C (p.Lys669Asn) c.1638A>C (p.Lys546Asn) n.2007A>C | |
| 13 | g.32336362A>G | CA483274999 | BRCA2 | c.2007A>G (p.Lys669=) c.1638A>G (p.Lys546=) n.2007A>G | |
| 13 | g.32336362A>T | CA387768736 | BRCA2 | c.2007A>T (p.Lys669Asn) c.1638A>T (p.Lys546Asn) n.2007A>T | dbSNP |
| 13 | g.32336363T>A | CA387768740 | BRCA2 | c.2008T>A (p.Cys670Ser) c.1639T>A (p.Cys547Ser) n.2008T>A | dbSNP |
| 13 | g.32336363T>C | CA387768743 | BRCA2 | c.2008T>C (p.Cys670Arg) c.1639T>C (p.Cys547Arg) n.2008T>C | ClinVar dbSNP |
| 13 | g.32336363T>G | CA387768744 | BRCA2 | c.2008T>G (p.Cys670Gly) c.1639T>G (p.Cys547Gly) n.2008T>G | ClinVar dbSNP |
| 13 | g.32336363T= | CA2082748594 | BRCA2 | c.2008T= (p.Cys670=) c.1639T= (p.Cys547=) n.2008T= | |
| 13 | g.32336364G>A | CA387768746 | BRCA2 | c.2009G>A (p.Cys670Tyr) c.1640G>A (p.Cys547Tyr) n.2009G>A | ClinVar dbSNP |