Canonical Allele Identifier: CA026136

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394827A>G , CM000675.2:g.32394827A>G	GRCh38
NC_000013.10:g.32968964A>G , CM000675.1:g.32968964A>G	GRCh37
NC_000013.9:g.31866964A>G	NCBI36
NG_012772.3:g.84348A>G , LRG_293:g.84348A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9395A>G MANE Select	NP_000050.3:p.Lys3132Arg
ENST00000380152.8:c.9395A>G MANE Select	ENSP00000369497.3:p.Lys3132Arg
NM_000059.3:c.9395A>G , LRG_293t1:c.9395A>G	NP_000050.2:p.Lys3132Arg
ENST00000380152.7:c.9395A>G	ENSP00000369497.3:p.Lys3132Arg
ENST00000470094.1:c.352A>G
ENST00000470094.2:c.9395A>G	ENSP00000434898.2:p.Lys3132Arg
ENST00000528762.2:c.*762A>G	ENSP00000433168.2:n.*762A>G
ENST00000530893.7:c.9026A>G	ENSP00000499438.2:p.Lys3009Arg
ENST00000544455.5:c.9395A>G	ENSP00000439902.1:p.Lys3132Arg
ENST00000544455.6:c.9395A>G	ENSP00000439902.1:p.Lys3132Arg
ENST00000614259.2:c.9403A>G	ENSP00000506251.1:n.9403A>G
ENST00000665585.1:c.2273A>G
ENST00000665585.2:c.*957A>G	ENSP00000499570.2:n.*957A>G
ENST00000666593.1:c.417A>G	ENSP00000499256.1:n.417A>G
ENST00000666593.2:c.*240A>G	ENSP00000499256.2:n.*240A>G
ENST00000680887.1:c.9395A>G	ENSP00000505508.1:p.Lys3132Arg
ENST00000700202.1:c.1811A>G	ENSP00000514856.1:p.Lys604Arg
ENST00000700202.2:c.9344A>G	ENSP00000514856.2:p.Lys3115Arg
ENST00000700203.1:n.1522A>G
XM_011535203.1:c.9395A>G	XP_011533505.1:p.Lys3132Arg
XM_011535204.1:c.9299A>G	XP_011533506.1:p.Lys3100Arg