Canonical Allele Identifier: CA2082836086
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398451A= , CM000675.2:g.32398451A= GRCh38
NC_000013.10:g.32972588A= , CM000675.1:g.32972588A= GRCh37
NC_000013.9:g.31870588A= NCBI36
NG_012772.3:g.87972A= , LRG_293:g.87972A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*461A= ENSP00000434898.2:n.*461A=
ENST00000528762.2:c.*1305A= ENSP00000433168.2:n.*1305A=
ENST00000530893.7:c.9569A= ENSP00000499438.2:p.Lys3190=
ENST00000665585.2:c.*1500A= ENSP00000499570.2:n.*1500A=
ENST00000700202.2:c.9887A= ENSP00000514856.2:p.Lys3296=
ENST00000700202.1:c.2354A= ENSP00000514856.1:p.Lys785=
ENST00000700203.1:n.2065A=
ENST00000380152.8:c.9938A= MANE Select ENSP00000369497.3:p.Lys3313=
ENST00000544455.6:c.9938A= ENSP00000439902.1:p.Lys3313=
ENST00000614259.2:c.9946A= ENSP00000506251.1:n.9946A=
ENST00000680887.1:c.9938A= ENSP00000505508.1:p.Lys3313=
ENST00000380152.7:c.9938A= ENSP00000369497.3:p.Lys3313=
ENST00000544455.5:c.9938A= ENSP00000439902.1:p.Lys3313=
NM_000059.3:c.9938A= , LRG_293t1:c.9938A= NP_000050.2:p.Lys3313=
XM_011535203.1:c.9938A= XP_011533505.1:p.Lys3313=
XM_011535204.1:c.9842A= XP_011533506.1:p.Lys3281=
NM_000059.4:c.9938A= MANE Select NP_000050.3:p.Lys3313=