Canonical Allele Identifier: CA387761803

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394913A>G , CM000675.2:g.32394913A>G	GRCh38
NC_000013.10:g.32969050A>G , CM000675.1:g.32969050A>G	GRCh37
NC_000013.9:g.31867050A>G	NCBI36
NG_012772.3:g.84434A>G , LRG_293:g.84434A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9481A>G MANE Select	NP_000050.3:p.Lys3161Glu
ENST00000380152.8:c.9481A>G MANE Select	ENSP00000369497.3:p.Lys3161Glu
NM_000059.3:c.9481A>G , LRG_293t1:c.9481A>G	NP_000050.2:p.Lys3161Glu
ENST00000380152.7:c.9481A>G	ENSP00000369497.3:p.Lys3161Glu
ENST00000470094.1:c.438A>G
ENST00000470094.2:c.9481A>G	ENSP00000434898.2:p.Lys3161Glu
ENST00000528762.2:c.*848A>G	ENSP00000433168.2:n.*848A>G
ENST00000530893.7:c.9112A>G	ENSP00000499438.2:p.Lys3038Glu
ENST00000544455.5:c.9481A>G	ENSP00000439902.1:p.Lys3161Glu
ENST00000544455.6:c.9481A>G	ENSP00000439902.1:p.Lys3161Glu
ENST00000614259.2:c.9489A>G	ENSP00000506251.1:n.9489A>G
ENST00000665585.1:c.2359A>G
ENST00000665585.2:c.*1043A>G	ENSP00000499570.2:n.*1043A>G
ENST00000666593.1:c.503A>G	ENSP00000499256.1:n.503A>G
ENST00000666593.2:c.*326A>G	ENSP00000499256.2:n.*326A>G
ENST00000680887.1:c.9481A>G	ENSP00000505508.1:p.Lys3161Glu
ENST00000700202.1:c.1897A>G	ENSP00000514856.1:p.Lys633Glu
ENST00000700202.2:c.9430A>G	ENSP00000514856.2:p.Lys3144Glu
ENST00000700203.1:n.1608A>G
XM_011535203.1:c.9481A>G	XP_011533505.1:p.Lys3161Glu
XM_011535204.1:c.9385A>G	XP_011533506.1:p.Lys3129Glu