Canonical Allele Identifier: CA2695217837
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398556del , CM000675.2:g.32398556del GRCh38
NC_000013.10:g.32972693del , CM000675.1:g.32972693del GRCh37
NC_000013.9:g.31870693del NCBI36
NG_012772.3:g.88077del , LRG_293:g.88077del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*566del ENSP00000434898.2:n.*566del
ENST00000528762.2:c.*1410del ENSP00000433168.2:n.*1410del
ENST00000530893.7:c.9674del ENSP00000499438.2:p.Asn3225IlefsTer?
ENST00000665585.2:c.*1605del ENSP00000499570.2:n.*1605del
ENST00000700202.2:c.9992del ENSP00000514856.2:p.Asn3331IlefsTer?
ENST00000700202.1:c.2459del ENSP00000514856.1:p.Asn820IlefsTer?
ENST00000700203.1:n.2170del
ENST00000380152.8:c.10043del MANE Select ENSP00000369497.3:p.Asn3348IlefsTer?
ENST00000544455.6:c.10043del ENSP00000439902.1:p.Asn3348IlefsTer?
ENST00000614259.2:c.10051del ENSP00000506251.1:n.10051del
ENST00000680887.1:c.10043del ENSP00000505508.1:p.Asn3348IlefsTer?
ENST00000380152.7:c.10043del ENSP00000369497.3:p.Asn3348IlefsTer?
ENST00000544455.5:c.10043del ENSP00000439902.1:p.Asn3348IlefsTer?
NM_000059.3:c.10043del , LRG_293t1:c.10043del NP_000050.2:p.Asn3348IlefsTer?
XM_011535203.1:c.10043del XP_011533505.1:p.Asn3348IlefsTer?
XM_011535204.1:c.9947del XP_011533506.1:p.Asn3316IlefsTer?
NM_000059.4:c.10043del MANE Select NP_000050.3:p.Asn3348IlefsTer?