Canonical Allele Identifier: CA026078
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394707_32394708del , CM000675.2:g.32394707_32394708del GRCh38
NC_000013.10:g.32968844_32968845del , CM000675.1:g.32968844_32968845del GRCh37
NC_000013.9:g.31866844_31866845del NCBI36
NG_012772.3:g.84228_84229del , LRG_293:g.84228_84229del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9275_9276del MANE Select NP_000050.3:p.Tyr3092PhefsTer18
ENST00000380152.8:c.9275_9276del MANE Select ENSP00000369497.3:p.Tyr3092PhefsTer18
NM_000059.3:c.9275_9276del , LRG_293t1:c.9275_9276del NP_000050.2:p.Tyr3092PhefsTer18
ENST00000380152.7:c.9275_9276del ENSP00000369497.3:p.Tyr3092PhefsTer18
ENST00000470094.1:c.232_233del
ENST00000470094.2:c.9275_9276del ENSP00000434898.2:p.Tyr3092PhefsTer18
ENST00000528762.2:c.*642_*643del ENSP00000433168.2:n.*642_*643del
ENST00000530893.7:c.8906_8907del ENSP00000499438.2:p.Tyr2969PhefsTer18
ENST00000544455.5:c.9275_9276del ENSP00000439902.1:p.Tyr3092PhefsTer18
ENST00000544455.6:c.9275_9276del ENSP00000439902.1:p.Tyr3092PhefsTer18
ENST00000614259.2:c.9283_9284del ENSP00000506251.1:n.9283_9284del
ENST00000665585.1:c.2153_2154del
ENST00000665585.2:c.*837_*838del ENSP00000499570.2:n.*837_*838del
ENST00000666593.1:c.297_298del ENSP00000499256.1:n.297_298del
ENST00000666593.2:c.*120_*121del ENSP00000499256.2:n.*120_*121del
ENST00000680887.1:c.9275_9276del ENSP00000505508.1:p.Tyr3092PhefsTer18
ENST00000700202.1:c.1691_1692del ENSP00000514856.1:p.Tyr564PhefsTer18
ENST00000700202.2:c.9224_9225del ENSP00000514856.2:p.Tyr3075PhefsTer18
ENST00000700203.1:n.1402_1403del
XM_011535203.1:c.9275_9276del XP_011533505.1:p.Tyr3092PhefsTer18
XM_011535204.1:c.9179_9180del XP_011533506.1:p.Tyr3060PhefsTer18