Canonical Allele Identifier: CA2082835646
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379361G= , CM000675.2:g.32379361G= GRCh38
NC_000013.10:g.32953498G= , CM000675.1:g.32953498G= GRCh37
NC_000013.9:g.31851498G= NCBI36
NG_012772.3:g.68882G= , LRG_293:g.68882G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8799G= ENSP00000434898.2:p.Arg2933=
ENST00000528762.2:c.*166G= ENSP00000433168.2:n.*166G=
ENST00000530893.7:c.8430G= ENSP00000499438.2:p.Arg2810=
ENST00000665585.2:c.*361G= ENSP00000499570.2:n.*361G=
ENST00000666593.2:c.8799G= ENSP00000499256.2:p.Arg2933=
ENST00000700202.2:c.8799G= ENSP00000514856.2:p.Arg2933=
ENST00000700202.1:c.1266G= ENSP00000514856.1:p.Arg422=
ENST00000700203.1:n.926G=
ENST00000380152.8:c.8799G= MANE Select ENSP00000369497.3:p.Arg2933=
ENST00000544455.6:c.8799G= ENSP00000439902.1:p.Arg2933=
ENST00000614259.2:c.8807G= ENSP00000506251.1:n.8807G=
ENST00000665585.1:c.1677G=
ENST00000680887.1:c.8799G= ENSP00000505508.1:p.Arg2933=
ENST00000380152.7:c.8799G= ENSP00000369497.3:p.Arg2933=
ENST00000528762.1:c.361G= ENSP00000433168.1:n.361G=
ENST00000544455.5:c.8799G= ENSP00000439902.1:p.Arg2933=
NM_000059.3:c.8799G= , LRG_293t1:c.8799G= NP_000050.2:p.Arg2933=
XM_011535203.1:c.8799G= XP_011533505.1:p.Arg2933=
XM_011535204.1:c.8703G= XP_011533506.1:p.Arg2901=
XM_011535205.1:c.8755-389G= XP_011533507.1:n.8755-389G=
NM_000059.4:c.8799G= MANE Select NP_000050.3:p.Arg2933=