Canonical Allele Identifier: CA913203499
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362524_32362624del , CM000675.2:g.32362524_32362624del GRCh38
NC_000013.10:g.32936661_32936761del , CM000675.1:g.32936661_32936761del GRCh37
NC_000013.9:g.31834661_31834761del NCBI36
NG_012772.3:g.52045_52145del , LRG_293:g.52045_52145del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7807_7907del ENSP00000434898.2:p.Ala2603CysfsTer4
ENST00000528762.2:c.7807_7907del ENSP00000433168.2:p.Ala2603CysfsTer4
ENST00000530893.7:c.7438_7538del ENSP00000499438.2:p.Ala2480CysfsTer4
ENST00000665585.2:c.7807_7907del ENSP00000499570.2:p.Ala2603CysfsTer4
ENST00000666593.2:c.7807_7907del ENSP00000499256.2:p.Ala2603CysfsTer4
ENST00000700202.2:c.7807_7907del ENSP00000514856.2:p.Ala2603CysfsTer4
ENST00000700202.1:c.274_374del ENSP00000514856.1:p.Ala92CysfsTer4
ENST00000380152.8:c.7807_7907del MANE Select ENSP00000369497.3:p.Ala2603CysfsTer4
ENST00000544455.6:c.7807_7907del ENSP00000439902.1:p.Ala2603CysfsTer4
ENST00000614259.2:c.7815_7915del ENSP00000506251.1:p.Leu2606AlafsTer?
ENST00000665585.1:c.372_472del
ENST00000680887.1:c.7807_7907del ENSP00000505508.1:p.Ala2603CysfsTer4
ENST00000380152.7:c.7807_7907del ENSP00000369497.3:p.Ala2603CysfsTer4
ENST00000544455.5:c.7807_7907del ENSP00000439902.1:p.Ala2603CysfsTer4
ENST00000614259.1:n.7815_7915del
NM_000059.3:c.7807_7907del , LRG_293t1:c.7807_7907del NP_000050.2:p.Ala2603CysfsTer4
XM_011535203.1:c.7807_7907del XP_011533505.1:p.Ala2603CysfsTer4
XM_011535204.1:c.7711_7811del XP_011533506.1:p.Ala2571CysfsTer4
XM_011535205.1:c.7807_7907del XP_011533507.1:p.Ala2603CysfsTer4
NM_000059.4:c.7807_7907del MANE Select NP_000050.3:p.Ala2603CysfsTer4