Canonical Allele Identifier: CA387761684

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394890G>A , CM000675.2:g.32394890G>A	GRCh38
NC_000013.10:g.32969027G>A , CM000675.1:g.32969027G>A	GRCh37
NC_000013.9:g.31867027G>A	NCBI36
NG_012772.3:g.84411G>A , LRG_293:g.84411G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9458G>A MANE Select	NP_000050.3:p.Gly3153Asp
ENST00000380152.8:c.9458G>A MANE Select	ENSP00000369497.3:p.Gly3153Asp
NM_000059.3:c.9458G>A , LRG_293t1:c.9458G>A	NP_000050.2:p.Gly3153Asp
ENST00000380152.7:c.9458G>A	ENSP00000369497.3:p.Gly3153Asp
ENST00000470094.1:c.415G>A
ENST00000470094.2:c.9458G>A	ENSP00000434898.2:p.Gly3153Asp
ENST00000528762.2:c.*825G>A	ENSP00000433168.2:n.*825G>A
ENST00000530893.7:c.9089G>A	ENSP00000499438.2:p.Gly3030Asp
ENST00000544455.5:c.9458G>A	ENSP00000439902.1:p.Gly3153Asp
ENST00000544455.6:c.9458G>A	ENSP00000439902.1:p.Gly3153Asp
ENST00000614259.2:c.9466G>A	ENSP00000506251.1:n.9466G>A
ENST00000665585.1:c.2336G>A
ENST00000665585.2:c.*1020G>A	ENSP00000499570.2:n.*1020G>A
ENST00000666593.1:c.480G>A	ENSP00000499256.1:n.480G>A
ENST00000666593.2:c.*303G>A	ENSP00000499256.2:n.*303G>A
ENST00000680887.1:c.9458G>A	ENSP00000505508.1:p.Gly3153Asp
ENST00000700202.1:c.1874G>A	ENSP00000514856.1:p.Gly625Asp
ENST00000700202.2:c.9407G>A	ENSP00000514856.2:p.Gly3136Asp
ENST00000700203.1:n.1585G>A
XM_011535203.1:c.9458G>A	XP_011533505.1:p.Gly3153Asp
XM_011535204.1:c.9362G>A	XP_011533506.1:p.Gly3121Asp