Canonical Allele Identifier: CA1139770799
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319264del , CM000675.2:g.32319264del GRCh38
NC_000013.10:g.32893401del , CM000675.1:g.32893401del GRCh37
NC_000013.9:g.31791401del NCBI36
NG_012772.3:g.8785del , LRG_293:g.8785del
NG_017006.2:g.1102del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.255del ENSP00000434898.2:p.Leu86Ter
ENST00000528762.2:c.255del ENSP00000433168.2:p.Leu86Ter
ENST00000530893.7:c.-115del ENSP00000499438.2:n.-115del
ENST00000665585.2:c.255del ENSP00000499570.2:p.Leu86Ter
ENST00000666593.2:c.255del ENSP00000499256.2:p.Leu86Ter
ENST00000700202.2:c.255del ENSP00000514856.2:p.Leu86Ter
ENST00000700200.1:n.191+2737del
ENST00000700201.1:c.255del ENSP00000514855.1:p.Leu86Ter
ENST00000380152.8:c.255del MANE Select ENSP00000369497.3:p.Leu86Ter
ENST00000544455.6:c.255del ENSP00000439902.1:p.Leu86Ter
ENST00000614259.2:c.255del ENSP00000506251.1:p.Leu86Ter
ENST00000680887.1:c.255del ENSP00000505508.1:p.Leu86Ter
ENST00000380152.7:c.255del ENSP00000369497.3:p.Leu86Ter
ENST00000530893.6:n.453del
ENST00000544455.5:c.255del ENSP00000439902.1:p.Leu86Ter
ENST00000614259.1:n.255del
NM_000059.3:c.255del , LRG_293t1:c.255del NP_000050.2:p.Leu86Ter
XM_011535203.1:c.255del XP_011533505.1:p.Leu86Ter
XM_011535204.1:c.255del XP_011533506.1:p.Leu86Ter
XM_011535205.1:c.255del XP_011533507.1:p.Leu86Ter
NM_000059.4:c.255del MANE Select NP_000050.3:p.Leu86Ter