Canonical Allele Identifier: CA387762932

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396914G>A , CM000675.2:g.32396914G>A	GRCh38
NC_000013.10:g.32971051G>A , CM000675.1:g.32971051G>A	GRCh37
NC_000013.9:g.31869051G>A	NCBI36
NG_012772.3:g.86435G>A , LRG_293:g.86435G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9518G>A MANE Select	NP_000050.3:p.Cys3173Tyr
ENST00000380152.8:c.9518G>A MANE Select	ENSP00000369497.3:p.Cys3173Tyr
NM_000059.3:c.9518G>A , LRG_293t1:c.9518G>A	NP_000050.2:p.Cys3173Tyr
ENST00000380152.7:c.9518G>A	ENSP00000369497.3:p.Cys3173Tyr
ENST00000470094.1:c.601G>A
ENST00000470094.2:c.*41G>A	ENSP00000434898.2:n.*41G>A
ENST00000528762.2:c.*885G>A	ENSP00000433168.2:n.*885G>A
ENST00000530893.7:c.9149G>A	ENSP00000499438.2:p.Cys3050Tyr
ENST00000533776.1:n.106G>A
ENST00000544455.5:c.9518G>A	ENSP00000439902.1:p.Cys3173Tyr
ENST00000544455.6:c.9518G>A	ENSP00000439902.1:p.Cys3173Tyr
ENST00000614259.2:c.9526G>A	ENSP00000506251.1:n.9526G>A
ENST00000665585.1:c.2396G>A
ENST00000665585.2:c.*1080G>A	ENSP00000499570.2:n.*1080G>A
ENST00000680887.1:c.9518G>A	ENSP00000505508.1:p.Cys3173Tyr
ENST00000700202.1:c.1934G>A	ENSP00000514856.1:p.Cys645Tyr
ENST00000700202.2:c.9467G>A	ENSP00000514856.2:p.Cys3156Tyr
ENST00000700203.1:n.1645G>A
XM_011535203.1:c.9518G>A	XP_011533505.1:p.Cys3173Tyr
XM_011535204.1:c.9422G>A	XP_011533506.1:p.Cys3141Tyr