Canonical Allele Identifier: CA387761899

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394931G>A , CM000675.2:g.32394931G>A	GRCh38
NC_000013.10:g.32969068G>A , CM000675.1:g.32969068G>A	GRCh37
NC_000013.9:g.31867068G>A	NCBI36
NG_012772.3:g.84452G>A , LRG_293:g.84452G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9499G>A MANE Select	NP_000050.3:p.Glu3167Lys
ENST00000380152.8:c.9499G>A MANE Select	ENSP00000369497.3:p.Glu3167Lys
NM_000059.3:c.9499G>A , LRG_293t1:c.9499G>A	NP_000050.2:p.Glu3167Lys
ENST00000380152.7:c.9499G>A	ENSP00000369497.3:p.Glu3167Lys
ENST00000470094.1:c.456G>A
ENST00000470094.2:c.9499G>A	ENSP00000434898.2:p.Glu3167Lys
ENST00000528762.2:c.*866G>A	ENSP00000433168.2:n.*866G>A
ENST00000530893.7:c.9130G>A	ENSP00000499438.2:p.Glu3044Lys
ENST00000544455.5:c.9499G>A	ENSP00000439902.1:p.Glu3167Lys
ENST00000544455.6:c.9499G>A	ENSP00000439902.1:p.Glu3167Lys
ENST00000614259.2:c.9507G>A	ENSP00000506251.1:n.9507G>A
ENST00000665585.1:c.2377G>A
ENST00000665585.2:c.*1061G>A	ENSP00000499570.2:n.*1061G>A
ENST00000666593.1:c.521G>A	ENSP00000499256.1:n.521G>A
ENST00000666593.2:c.*344G>A	ENSP00000499256.2:n.*344G>A
ENST00000680887.1:c.9499G>A	ENSP00000505508.1:p.Glu3167Lys
ENST00000700202.1:c.1915G>A	ENSP00000514856.1:p.Glu639Lys
ENST00000700202.2:c.9448G>A	ENSP00000514856.2:p.Glu3150Lys
ENST00000700203.1:n.1626G>A
XM_011535203.1:c.9499G>A	XP_011533505.1:p.Glu3167Lys
XM_011535204.1:c.9403G>A	XP_011533506.1:p.Glu3135Lys