Canonical Allele Identifier: CA2695217835
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398488dup , CM000675.2:g.32398488dup GRCh38
NC_000013.10:g.32972625dup , CM000675.1:g.32972625dup GRCh37
NC_000013.9:g.31870625dup NCBI36
NG_012772.3:g.88009dup , LRG_293:g.88009dup

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*498dup ENSP00000434898.2:n.*498dup
ENST00000528762.2:c.*1342dup ENSP00000433168.2:n.*1342dup
ENST00000530893.7:c.9606dup ENSP00000499438.2:p.Lys3203Ter
ENST00000665585.2:c.*1537dup ENSP00000499570.2:n.*1537dup
ENST00000700202.2:c.9924dup ENSP00000514856.2:p.Lys3309Ter
ENST00000700202.1:c.2391dup ENSP00000514856.1:p.Lys798Ter
ENST00000700203.1:n.2102dup
ENST00000380152.8:c.9975dup MANE Select ENSP00000369497.3:p.Lys3326Ter
ENST00000544455.6:c.9975dup ENSP00000439902.1:p.Lys3326Ter
ENST00000614259.2:c.9983dup ENSP00000506251.1:n.9983dup
ENST00000680887.1:c.9975dup ENSP00000505508.1:p.Lys3326Ter
ENST00000380152.7:c.9975dup ENSP00000369497.3:p.Lys3326Ter
ENST00000544455.5:c.9975dup ENSP00000439902.1:p.Lys3326Ter
NM_000059.3:c.9975dup , LRG_293t1:c.9975dup NP_000050.2:p.Lys3326Ter
XM_011535203.1:c.9975dup XP_011533505.1:p.Lys3326Ter
XM_011535204.1:c.9879dup XP_011533506.1:p.Lys3294Ter
NM_000059.4:c.9975dup MANE Select NP_000050.3:p.Lys3326Ter