Canonical Allele Identifier: CA026196
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32396909_32396912del , CM000675.2:g.32396909_32396912del GRCh38
NC_000013.10:g.32971046_32971049del , CM000675.1:g.32971046_32971049del GRCh37
NC_000013.9:g.31869046_31869049del NCBI36
NG_012772.3:g.86430_86433del , LRG_293:g.86430_86433del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9513_9516del MANE Select NP_000050.3:p.Leu3172AlafsTer?
ENST00000380152.8:c.9513_9516del MANE Select ENSP00000369497.3:p.Leu3172AlafsTer?
NM_000059.3:c.9513_9516del , LRG_293t1:c.9513_9516del NP_000050.2:p.Leu3172AlafsTer?
ENST00000380152.7:c.9513_9516del ENSP00000369497.3:p.Leu3172AlafsTer?
ENST00000470094.1:c.596_599del
ENST00000470094.2:c.*36_*39del ENSP00000434898.2:n.*36_*39del
ENST00000528762.2:c.*880_*883del ENSP00000433168.2:n.*880_*883del
ENST00000530893.7:c.9144_9147del ENSP00000499438.2:p.Leu3049AlafsTer?
ENST00000533776.1:n.101_104del
ENST00000544455.5:c.9513_9516del ENSP00000439902.1:p.Leu3172AlafsTer?
ENST00000544455.6:c.9513_9516del ENSP00000439902.1:p.Leu3172AlafsTer?
ENST00000614259.2:c.9521_9524del ENSP00000506251.1:n.9521_9524del
ENST00000665585.1:c.2391_2394del
ENST00000665585.2:c.*1075_*1078del ENSP00000499570.2:n.*1075_*1078del
ENST00000680887.1:c.9513_9516del ENSP00000505508.1:p.Leu3172AlafsTer?
ENST00000700202.1:c.1929_1932del ENSP00000514856.1:p.Leu644AlafsTer?
ENST00000700202.2:c.9462_9465del ENSP00000514856.2:p.Leu3155AlafsTer?
ENST00000700203.1:n.1640_1643del
XM_011535203.1:c.9513_9516del XP_011533505.1:p.Leu3172AlafsTer?
XM_011535204.1:c.9417_9420del XP_011533506.1:p.Leu3140AlafsTer?