Canonical Allele Identifier: CA2082822839
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394766G= , CM000675.2:g.32394766G= GRCh38
NC_000013.10:g.32968903G= , CM000675.1:g.32968903G= GRCh37
NC_000013.9:g.31866903G= NCBI36
NG_012772.3:g.84287G= , LRG_293:g.84287G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9334G= ENSP00000434898.2:p.Asp3112=
ENST00000528762.2:c.*701G= ENSP00000433168.2:n.*701G=
ENST00000530893.7:c.8965G= ENSP00000499438.2:p.Asp2989=
ENST00000665585.2:c.*896G= ENSP00000499570.2:n.*896G=
ENST00000666593.2:c.*179G= ENSP00000499256.2:n.*179G=
ENST00000700202.2:c.9283G= ENSP00000514856.2:p.Asp3095=
ENST00000700202.1:c.1750G= ENSP00000514856.1:p.Asp584=
ENST00000700203.1:n.1461G=
ENST00000380152.8:c.9334G= MANE Select ENSP00000369497.3:p.Asp3112=
ENST00000544455.6:c.9334G= ENSP00000439902.1:p.Asp3112=
ENST00000614259.2:c.9342G= ENSP00000506251.1:n.9342G=
ENST00000665585.1:c.2212G=
ENST00000666593.1:c.356G= ENSP00000499256.1:n.356G=
ENST00000680887.1:c.9334G= ENSP00000505508.1:p.Asp3112=
ENST00000380152.7:c.9334G= ENSP00000369497.3:p.Asp3112=
ENST00000470094.1:c.291G=
ENST00000544455.5:c.9334G= ENSP00000439902.1:p.Asp3112=
NM_000059.3:c.9334G= , LRG_293t1:c.9334G= NP_000050.2:p.Asp3112=
XM_011535203.1:c.9334G= XP_011533505.1:p.Asp3112=
XM_011535204.1:c.9238G= XP_011533506.1:p.Asp3080=
NM_000059.4:c.9334G= MANE Select NP_000050.3:p.Asp3112=