Canonical Allele Identifier: CA387763088

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396932A>G , CM000675.2:g.32396932A>G	GRCh38
NC_000013.10:g.32971069A>G , CM000675.1:g.32971069A>G	GRCh37
NC_000013.9:g.31869069A>G	NCBI36
NG_012772.3:g.86453A>G , LRG_293:g.86453A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9536A>G MANE Select	NP_000050.3:p.Lys3179Arg
ENST00000380152.8:c.9536A>G MANE Select	ENSP00000369497.3:p.Lys3179Arg
NM_000059.3:c.9536A>G , LRG_293t1:c.9536A>G	NP_000050.2:p.Lys3179Arg
ENST00000380152.7:c.9536A>G	ENSP00000369497.3:p.Lys3179Arg
ENST00000470094.1:c.619A>G
ENST00000470094.2:c.*59A>G	ENSP00000434898.2:n.*59A>G
ENST00000528762.2:c.*903A>G	ENSP00000433168.2:n.*903A>G
ENST00000530893.7:c.9167A>G	ENSP00000499438.2:p.Lys3056Arg
ENST00000533776.1:n.124A>G
ENST00000544455.5:c.9536A>G	ENSP00000439902.1:p.Lys3179Arg
ENST00000544455.6:c.9536A>G	ENSP00000439902.1:p.Lys3179Arg
ENST00000614259.2:c.9544A>G	ENSP00000506251.1:n.9544A>G
ENST00000665585.1:c.2414A>G
ENST00000665585.2:c.*1098A>G	ENSP00000499570.2:n.*1098A>G
ENST00000680887.1:c.9536A>G	ENSP00000505508.1:p.Lys3179Arg
ENST00000700202.1:c.1952A>G	ENSP00000514856.1:p.Lys651Arg
ENST00000700202.2:c.9485A>G	ENSP00000514856.2:p.Lys3162Arg
ENST00000700203.1:n.1663A>G
XM_011535203.1:c.9536A>G	XP_011533505.1:p.Lys3179Arg
XM_011535204.1:c.9440A>G	XP_011533506.1:p.Lys3147Arg