Canonical Allele Identifier: CA2695218183
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337613_32337649del , CM000675.2:g.32337613_32337649del GRCh38
NC_000013.10:g.32911750_32911786del , CM000675.1:g.32911750_32911786del GRCh37
NC_000013.9:g.31809750_31809786del NCBI36
NG_012772.3:g.27134_27170del , LRG_293:g.27134_27170del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.3258_3294del ENSP00000434898.2:p.Thr1087GlnfsTer5
ENST00000528762.2:c.3258_3294del ENSP00000433168.2:p.Thr1087GlnfsTer5
ENST00000530893.7:c.2889_2925del ENSP00000499438.2:p.Thr964GlnfsTer5
ENST00000665585.2:c.3258_3294del ENSP00000499570.2:p.Thr1087GlnfsTer5
ENST00000666593.2:c.3258_3294del ENSP00000499256.2:p.Thr1087GlnfsTer5
ENST00000700202.2:c.3258_3294del ENSP00000514856.2:p.Thr1087GlnfsTer5
ENST00000380152.8:c.3258_3294del MANE Select ENSP00000369497.3:p.Thr1087GlnfsTer5
ENST00000544455.6:c.3258_3294del ENSP00000439902.1:p.Thr1087GlnfsTer5
ENST00000614259.2:c.3258_3294del ENSP00000506251.1:p.Thr1087GlnfsTer5
ENST00000680887.1:c.3258_3294del ENSP00000505508.1:p.Thr1087GlnfsTer5
ENST00000380152.7:c.3258_3294del ENSP00000369497.3:p.Thr1087GlnfsTer5
ENST00000544455.5:c.3258_3294del ENSP00000439902.1:p.Thr1087GlnfsTer5
ENST00000614259.1:n.3258_3294del
NM_000059.3:c.3258_3294del , LRG_293t1:c.3258_3294del NP_000050.2:p.Thr1087GlnfsTer5
XM_011535203.1:c.3258_3294del XP_011533505.1:p.Thr1087GlnfsTer5
XM_011535204.1:c.3258_3294del XP_011533506.1:p.Thr1087GlnfsTer5
XM_011535205.1:c.3258_3294del XP_011533507.1:p.Thr1087GlnfsTer5
NM_000059.4:c.3258_3294del MANE Select NP_000050.3:p.Thr1087GlnfsTer5