Canonical Allele Identifier: CA2082836083
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379437G= , CM000675.2:g.32379437G= GRCh38
NC_000013.10:g.32953574G= , CM000675.1:g.32953574G= GRCh37
NC_000013.9:g.31851574G= NCBI36
NG_012772.3:g.68958G= , LRG_293:g.68958G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8875G= ENSP00000434898.2:p.Glu2959=
ENST00000528762.2:c.*242G= ENSP00000433168.2:n.*242G=
ENST00000530893.7:c.8506G= ENSP00000499438.2:p.Glu2836=
ENST00000665585.2:c.*437G= ENSP00000499570.2:n.*437G=
ENST00000666593.2:c.8875G= ENSP00000499256.2:p.Glu2959=
ENST00000700202.2:c.8875G= ENSP00000514856.2:p.Glu2959=
ENST00000700202.1:c.1342G= ENSP00000514856.1:p.Glu448=
ENST00000700203.1:n.1002G=
ENST00000380152.8:c.8875G= MANE Select ENSP00000369497.3:p.Glu2959=
ENST00000544455.6:c.8875G= ENSP00000439902.1:p.Glu2959=
ENST00000614259.2:c.8883G= ENSP00000506251.1:n.8883G=
ENST00000665585.1:c.1753G=
ENST00000680887.1:c.8875G= ENSP00000505508.1:p.Glu2959=
ENST00000380152.7:c.8875G= ENSP00000369497.3:p.Glu2959=
ENST00000528762.1:c.437G= ENSP00000433168.1:n.437G=
ENST00000544455.5:c.8875G= ENSP00000439902.1:p.Glu2959=
NM_000059.3:c.8875G= , LRG_293t1:c.8875G= NP_000050.2:p.Glu2959=
XM_011535203.1:c.8875G= XP_011533505.1:p.Glu2959=
XM_011535204.1:c.8779G= XP_011533506.1:p.Glu2927=
XM_011535205.1:c.8755-313G= XP_011533507.1:n.8755-313G=
NM_000059.4:c.8875G= MANE Select NP_000050.3:p.Glu2959=