Canonical Allele Identifier: CA387758165

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380077C>G , CM000675.2:g.32380077C>G	GRCh38
NC_000013.10:g.32954214C>G , CM000675.1:g.32954214C>G	GRCh37
NC_000013.9:g.31852214C>G	NCBI36
NG_012772.3:g.69598C>G , LRG_293:g.69598C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9188C>G MANE Select	NP_000050.3:p.Pro3063Arg
ENST00000380152.8:c.9188C>G MANE Select	ENSP00000369497.3:p.Pro3063Arg
NM_000059.3:c.9188C>G , LRG_293t1:c.9188C>G	NP_000050.2:p.Pro3063Arg
ENST00000380152.7:c.9188C>G	ENSP00000369497.3:p.Pro3063Arg
ENST00000470094.1:c.145C>G
ENST00000470094.2:c.9188C>G	ENSP00000434898.2:p.Pro3063Arg
ENST00000528762.2:c.*555C>G	ENSP00000433168.2:n.*555C>G
ENST00000530893.7:c.8819C>G	ENSP00000499438.2:p.Pro2940Arg
ENST00000544455.5:c.9188C>G	ENSP00000439902.1:p.Pro3063Arg
ENST00000544455.6:c.9188C>G	ENSP00000439902.1:p.Pro3063Arg
ENST00000614259.2:c.9196C>G	ENSP00000506251.1:n.9196C>G
ENST00000665585.1:c.2066C>G
ENST00000665585.2:c.*750C>G	ENSP00000499570.2:n.*750C>G
ENST00000666593.1:c.71C>G	ENSP00000499256.1:p.Pro24Arg
ENST00000666593.2:c.9188C>G	ENSP00000499256.2:p.Pro3063Arg
ENST00000680887.1:c.9188C>G	ENSP00000505508.1:p.Pro3063Arg
ENST00000700202.1:c.1604C>G	ENSP00000514856.1:p.Pro535Arg
ENST00000700202.2:c.9137C>G	ENSP00000514856.2:p.Pro3046Arg
ENST00000700203.1:n.1315C>G
XM_011535203.1:c.9188C>G	XP_011533505.1:p.Pro3063Arg
XM_011535204.1:c.9092C>G	XP_011533506.1:p.Pro3031Arg