Canonical Allele Identifier: CA026164

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394887A>G , CM000675.2:g.32394887A>G	GRCh38
NC_000013.10:g.32969024A>G , CM000675.1:g.32969024A>G	GRCh37
NC_000013.9:g.31867024A>G	NCBI36
NG_012772.3:g.84408A>G , LRG_293:g.84408A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9455A>G MANE Select	NP_000050.3:p.Glu3152Gly
ENST00000380152.8:c.9455A>G MANE Select	ENSP00000369497.3:p.Glu3152Gly
NM_000059.3:c.9455A>G , LRG_293t1:c.9455A>G	NP_000050.2:p.Glu3152Gly
ENST00000380152.7:c.9455A>G	ENSP00000369497.3:p.Glu3152Gly
ENST00000470094.1:c.412A>G
ENST00000470094.2:c.9455A>G	ENSP00000434898.2:p.Glu3152Gly
ENST00000528762.2:c.*822A>G	ENSP00000433168.2:n.*822A>G
ENST00000530893.7:c.9086A>G	ENSP00000499438.2:p.Glu3029Gly
ENST00000544455.5:c.9455A>G	ENSP00000439902.1:p.Glu3152Gly
ENST00000544455.6:c.9455A>G	ENSP00000439902.1:p.Glu3152Gly
ENST00000614259.2:c.9463A>G	ENSP00000506251.1:n.9463A>G
ENST00000665585.1:c.2333A>G
ENST00000665585.2:c.*1017A>G	ENSP00000499570.2:n.*1017A>G
ENST00000666593.1:c.477A>G	ENSP00000499256.1:n.477A>G
ENST00000666593.2:c.*300A>G	ENSP00000499256.2:n.*300A>G
ENST00000680887.1:c.9455A>G	ENSP00000505508.1:p.Glu3152Gly
ENST00000700202.1:c.1871A>G	ENSP00000514856.1:p.Glu624Gly
ENST00000700202.2:c.9404A>G	ENSP00000514856.2:p.Glu3135Gly
ENST00000700203.1:n.1582A>G
XM_011535203.1:c.9455A>G	XP_011533505.1:p.Glu3152Gly
XM_011535204.1:c.9359A>G	XP_011533506.1:p.Glu3120Gly