Canonical Allele Identifier: CA026102
Gene: BRCA2 HGNC NCBI
BRCA Exchange:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394742_32394743del , CM000675.2:g.32394742_32394743del GRCh38
NC_000013.10:g.32968879_32968880del , CM000675.1:g.32968879_32968880del GRCh37
NC_000013.9:g.31866879_31866880del NCBI36
NG_012772.3:g.84263_84264del , LRG_293:g.84263_84264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9310_9311del ENSP00000434898.2:p.Lys3104ValfsTer6
ENST00000528762.2:c.*677_*678del ENSP00000433168.2:n.*677_*678del
ENST00000530893.7:c.8941_8942del ENSP00000499438.2:p.Lys2981ValfsTer6
ENST00000665585.2:c.*872_*873del ENSP00000499570.2:n.*872_*873del
ENST00000666593.2:c.*155_*156del ENSP00000499256.2:n.*155_*156del
ENST00000700202.2:c.9259_9260del ENSP00000514856.2:p.Lys3087ValfsTer6
ENST00000700202.1:c.1726_1727del ENSP00000514856.1:p.Lys576ValfsTer6
ENST00000700203.1:n.1437_1438del
ENST00000380152.8:c.9310_9311del MANE Select ENSP00000369497.3:p.Lys3104ValfsTer6
ENST00000544455.6:c.9310_9311del ENSP00000439902.1:p.Lys3104ValfsTer6
ENST00000614259.2:c.9318_9319del ENSP00000506251.1:n.9318_9319del
ENST00000665585.1:c.2188_2189del
ENST00000666593.1:c.332_333del ENSP00000499256.1:n.332_333del
ENST00000680887.1:c.9310_9311del ENSP00000505508.1:p.Lys3104ValfsTer6
ENST00000380152.7:c.9310_9311del ENSP00000369497.3:p.Lys3104ValfsTer6
ENST00000470094.1:c.267_268del
ENST00000544455.5:c.9310_9311del ENSP00000439902.1:p.Lys3104ValfsTer6
NM_000059.3:c.9310_9311del , LRG_293t1:c.9310_9311del NP_000050.2:p.Lys3104ValfsTer6
XM_011535203.1:c.9310_9311del XP_011533505.1:p.Lys3104ValfsTer6
XM_011535204.1:c.9214_9215del XP_011533506.1:p.Lys3072ValfsTer6
NM_000059.4:c.9310_9311del MANE Select NP_000050.3:p.Lys3104ValfsTer6