Canonical Allele Identifier: CA387765784

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398280A>G , CM000675.2:g.32398280A>G	GRCh38
NC_000013.10:g.32972417A>G , CM000675.1:g.32972417A>G	GRCh37
NC_000013.9:g.31870417A>G	NCBI36
NG_012772.3:g.87801A>G , LRG_293:g.87801A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9767A>G MANE Select	NP_000050.3:p.Glu3256Gly
ENST00000380152.8:c.9767A>G MANE Select	ENSP00000369497.3:p.Glu3256Gly
NM_000059.3:c.9767A>G , LRG_293t1:c.9767A>G	NP_000050.2:p.Glu3256Gly
ENST00000380152.7:c.9767A>G	ENSP00000369497.3:p.Glu3256Gly
ENST00000470094.2:c.*290A>G	ENSP00000434898.2:n.*290A>G
ENST00000528762.2:c.*1134A>G	ENSP00000433168.2:n.*1134A>G
ENST00000530893.7:c.9398A>G	ENSP00000499438.2:p.Glu3133Gly
ENST00000533776.1:n.355A>G
ENST00000544455.5:c.9767A>G	ENSP00000439902.1:p.Glu3256Gly
ENST00000544455.6:c.9767A>G	ENSP00000439902.1:p.Glu3256Gly
ENST00000614259.2:c.9775A>G	ENSP00000506251.1:n.9775A>G
ENST00000665585.2:c.*1329A>G	ENSP00000499570.2:n.*1329A>G
ENST00000680887.1:c.9767A>G	ENSP00000505508.1:p.Glu3256Gly
ENST00000700202.1:c.2183A>G	ENSP00000514856.1:p.Glu728Gly
ENST00000700202.2:c.9716A>G	ENSP00000514856.2:p.Glu3239Gly
ENST00000700203.1:n.1894A>G
XM_011535203.1:c.9767A>G	XP_011533505.1:p.Glu3256Gly
XM_011535204.1:c.9671A>G	XP_011533506.1:p.Glu3224Gly