Canonical Allele Identifier: CA2082822182
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394716A= , CM000675.2:g.32394716A= GRCh38
NC_000013.10:g.32968853A= , CM000675.1:g.32968853A= GRCh37
NC_000013.9:g.31866853A= NCBI36
NG_012772.3:g.84237A= , LRG_293:g.84237A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9284A= ENSP00000434898.2:p.Asp3095=
ENST00000528762.2:c.*651A= ENSP00000433168.2:n.*651A=
ENST00000530893.7:c.8915A= ENSP00000499438.2:p.Asp2972=
ENST00000665585.2:c.*846A= ENSP00000499570.2:n.*846A=
ENST00000666593.2:c.*129A= ENSP00000499256.2:n.*129A=
ENST00000700202.2:c.9233A= ENSP00000514856.2:p.Asp3078=
ENST00000700202.1:c.1700A= ENSP00000514856.1:p.Asp567=
ENST00000700203.1:n.1411A=
ENST00000380152.8:c.9284A= MANE Select ENSP00000369497.3:p.Asp3095=
ENST00000544455.6:c.9284A= ENSP00000439902.1:p.Asp3095=
ENST00000614259.2:c.9292A= ENSP00000506251.1:n.9292A=
ENST00000665585.1:c.2162A=
ENST00000666593.1:c.306A= ENSP00000499256.1:n.306A=
ENST00000680887.1:c.9284A= ENSP00000505508.1:p.Asp3095=
ENST00000380152.7:c.9284A= ENSP00000369497.3:p.Asp3095=
ENST00000470094.1:c.241A=
ENST00000544455.5:c.9284A= ENSP00000439902.1:p.Asp3095=
NM_000059.3:c.9284A= , LRG_293t1:c.9284A= NP_000050.2:p.Asp3095=
XM_011535203.1:c.9284A= XP_011533505.1:p.Asp3095=
XM_011535204.1:c.9188A= XP_011533506.1:p.Asp3063=
NM_000059.4:c.9284A= MANE Select NP_000050.3:p.Asp3095=