Canonical Allele Identifier: CA024495
Gene: BRCA2 HGNC NCBI
BRCA Exchange:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32341276_32341279del , CM000675.2:g.32341276_32341279del GRCh38
NC_000013.10:g.32915413_32915416del , CM000675.1:g.32915413_32915416del GRCh37
NC_000013.9:g.31813413_31813416del NCBI36
NG_012772.3:g.30797_30800del , LRG_293:g.30797_30800del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.6841+80_6841+83del ENSP00000434898.2:n.6841+80_6841+83del
ENST00000528762.2:c.6841+80_6841+83del ENSP00000433168.2:n.6841+80_6841+83del
ENST00000530893.7:c.6472+80_6472+83del ENSP00000499438.2:n.6472+80_6472+83del
ENST00000665585.2:c.6841+80_6841+83del ENSP00000499570.2:n.6841+80_6841+83del
ENST00000666593.2:c.6841+80_6841+83del ENSP00000499256.2:n.6841+80_6841+83del
ENST00000700202.2:c.6841+80_6841+83del ENSP00000514856.2:n.6841+80_6841+83del
ENST00000380152.8:c.6841+80_6841+83del MANE Select ENSP00000369497.3:n.6841+80_6841+83del
ENST00000544455.6:c.6841+80_6841+83del ENSP00000439902.1:n.6841+80_6841+83del
ENST00000614259.2:c.6841+80_6841+83del ENSP00000506251.1:n.6841+80_6841+83del
ENST00000680887.1:c.6841+80_6841+83del ENSP00000505508.1:n.6841+80_6841+83del
ENST00000380152.7:c.6841+80_6841+83del ENSP00000369497.3:n.6841+80_6841+83del
ENST00000544455.5:c.6841+80_6841+83del ENSP00000439902.1:n.6841+80_6841+83del
ENST00000614259.1:n.6841+80_6841+83del
NM_000059.3:c.6841+80_6841+83del , LRG_293t1:c.6841+80_6841+83del NP_000050.2:n.6841+80_6841+83del
XM_011535203.1:c.6841+80_6841+83del XP_011533505.1:n.6841+80_6841+83del
XM_011535204.1:c.6841+80_6841+83del XP_011533506.1:n.6841+80_6841+83del
XM_011535205.1:c.6841+80_6841+83del XP_011533507.1:n.6841+80_6841+83del
NM_000059.4:c.6841+80_6841+83del MANE Select NP_000050.3:n.6841+80_6841+83del