Canonical Allele Identifier: CA024691
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32346892_32346896del , CM000675.2:g.32346892_32346896del GRCh38
NC_000013.10:g.32921029_32921033del , CM000675.1:g.32921029_32921033del GRCh37
NC_000013.9:g.31819029_31819033del NCBI36
NG_012772.3:g.36413_36417del , LRG_293:g.36413_36417del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.7003_7007del MANE Select NP_000050.3:p.Phe2335HisfsTer3
ENST00000380152.8:c.7003_7007del MANE Select ENSP00000369497.3:p.Phe2335HisfsTer3
NM_000059.3:c.7003_7007del , LRG_293t1:c.7003_7007del NP_000050.2:p.Phe2335HisfsTer3
ENST00000380152.7:c.7003_7007del ENSP00000369497.3:p.Phe2335HisfsTer3
ENST00000470094.2:c.7003_7007del ENSP00000434898.2:p.Phe2335HisfsTer3
ENST00000528762.2:c.7003_7007del ENSP00000433168.2:p.Phe2335HisfsTer3
ENST00000530893.7:c.6634_6638del ENSP00000499438.2:p.Phe2212HisfsTer3
ENST00000544455.5:c.7003_7007del ENSP00000439902.1:p.Phe2335HisfsTer3
ENST00000544455.6:c.7003_7007del ENSP00000439902.1:p.Phe2335HisfsTer3
ENST00000614259.1:n.7003_7007del
ENST00000614259.2:c.7003_7007del ENSP00000506251.1:p.Phe2335HisfsTer3
ENST00000665585.2:c.7003_7007del ENSP00000499570.2:p.Phe2335HisfsTer3
ENST00000666593.2:c.7003_7007del ENSP00000499256.2:p.Phe2335HisfsTer3
ENST00000680887.1:c.7003_7007del ENSP00000505508.1:p.Phe2335HisfsTer3
ENST00000700202.2:c.7003_7007del ENSP00000514856.2:p.Phe2335HisfsTer3
XM_011535203.1:c.7003_7007del XP_011533505.1:p.Phe2335HisfsTer3
XM_011535204.1:c.6907_6911del XP_011533506.1:p.Phe2303HisfsTer3
XM_011535205.1:c.7003_7007del XP_011533507.1:p.Phe2335HisfsTer3