Canonical Allele Identifier: CA387758719

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380142A>G , CM000675.2:g.32380142A>G	GRCh38
NC_000013.10:g.32954279A>G , CM000675.1:g.32954279A>G	GRCh37
NC_000013.9:g.31852279A>G	NCBI36
NG_012772.3:g.69663A>G , LRG_293:g.69663A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9253A>G MANE Select	NP_000050.3:p.Thr3085Ala
ENST00000380152.8:c.9253A>G MANE Select	ENSP00000369497.3:p.Thr3085Ala
NM_000059.3:c.9253A>G , LRG_293t1:c.9253A>G	NP_000050.2:p.Thr3085Ala
ENST00000380152.7:c.9253A>G	ENSP00000369497.3:p.Thr3085Ala
ENST00000470094.1:c.210A>G
ENST00000470094.2:c.9253A>G	ENSP00000434898.2:p.Thr3085Ala
ENST00000528762.2:c.*620A>G	ENSP00000433168.2:n.*620A>G
ENST00000530893.7:c.8884A>G	ENSP00000499438.2:p.Thr2962Ala
ENST00000544455.5:c.9253A>G	ENSP00000439902.1:p.Thr3085Ala
ENST00000544455.6:c.9253A>G	ENSP00000439902.1:p.Thr3085Ala
ENST00000614259.2:c.9261A>G	ENSP00000506251.1:n.9261A>G
ENST00000665585.1:c.2131A>G
ENST00000665585.2:c.*815A>G	ENSP00000499570.2:n.*815A>G
ENST00000666593.1:c.136A>G	ENSP00000499256.1:p.Thr46Ala
ENST00000666593.2:c.9253A>G	ENSP00000499256.2:p.Thr3085Ala
ENST00000680887.1:c.9253A>G	ENSP00000505508.1:p.Thr3085Ala
ENST00000700202.1:c.1669A>G	ENSP00000514856.1:p.Thr557Ala
ENST00000700202.2:c.9202A>G	ENSP00000514856.2:p.Thr3068Ala
ENST00000700203.1:n.1380A>G
XM_011535203.1:c.9253A>G	XP_011533505.1:p.Thr3085Ala
XM_011535204.1:c.9157A>G	XP_011533506.1:p.Thr3053Ala