Canonical Allele Identifier: CA2082836008
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398443A= , CM000675.2:g.32398443A= GRCh38
NC_000013.10:g.32972580A= , CM000675.1:g.32972580A= GRCh37
NC_000013.9:g.31870580A= NCBI36
NG_012772.3:g.87964A= , LRG_293:g.87964A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*453A= ENSP00000434898.2:n.*453A=
ENST00000528762.2:c.*1297A= ENSP00000433168.2:n.*1297A=
ENST00000530893.7:c.9561A= ENSP00000499438.2:p.Thr3187=
ENST00000665585.2:c.*1492A= ENSP00000499570.2:n.*1492A=
ENST00000700202.2:c.9879A= ENSP00000514856.2:p.Thr3293=
ENST00000700202.1:c.2346A= ENSP00000514856.1:p.Thr782=
ENST00000700203.1:n.2057A=
ENST00000380152.8:c.9930A= MANE Select ENSP00000369497.3:p.Thr3310=
ENST00000544455.6:c.9930A= ENSP00000439902.1:p.Thr3310=
ENST00000614259.2:c.9938A= ENSP00000506251.1:n.9938A=
ENST00000680887.1:c.9930A= ENSP00000505508.1:p.Thr3310=
ENST00000380152.7:c.9930A= ENSP00000369497.3:p.Thr3310=
ENST00000533776.1:n.518A=
ENST00000544455.5:c.9930A= ENSP00000439902.1:p.Thr3310=
NM_000059.3:c.9930A= , LRG_293t1:c.9930A= NP_000050.2:p.Thr3310=
XM_011535203.1:c.9930A= XP_011533505.1:p.Thr3310=
XM_011535204.1:c.9834A= XP_011533506.1:p.Thr3278=
NM_000059.4:c.9930A= MANE Select NP_000050.3:p.Thr3310=