Canonical Allele Identifier: CA026010

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380050C>A , CM000675.2:g.32380050C>A	GRCh38
NC_000013.10:g.32954187C>A , CM000675.1:g.32954187C>A	GRCh37
NC_000013.9:g.31852187C>A	NCBI36
NG_012772.3:g.69571C>A , LRG_293:g.69571C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9161C>A MANE Select	NP_000050.3:p.Pro3054His
ENST00000380152.8:c.9161C>A MANE Select	ENSP00000369497.3:p.Pro3054His
NM_000059.3:c.9161C>A , LRG_293t1:c.9161C>A	NP_000050.2:p.Pro3054His
ENST00000380152.7:c.9161C>A	ENSP00000369497.3:p.Pro3054His
ENST00000470094.1:c.118C>A
ENST00000470094.2:c.9161C>A	ENSP00000434898.2:p.Pro3054His
ENST00000528762.2:c.*528C>A	ENSP00000433168.2:n.*528C>A
ENST00000530893.7:c.8792C>A	ENSP00000499438.2:p.Pro2931His
ENST00000544455.5:c.9161C>A	ENSP00000439902.1:p.Pro3054His
ENST00000544455.6:c.9161C>A	ENSP00000439902.1:p.Pro3054His
ENST00000614259.2:c.9169C>A	ENSP00000506251.1:n.9169C>A
ENST00000665585.1:c.2039C>A
ENST00000665585.2:c.*723C>A	ENSP00000499570.2:n.*723C>A
ENST00000666593.1:c.44C>A	ENSP00000499256.1:p.Pro15His
ENST00000666593.2:c.9161C>A	ENSP00000499256.2:p.Pro3054His
ENST00000680887.1:c.9161C>A	ENSP00000505508.1:p.Pro3054His
ENST00000700202.1:c.1577C>A	ENSP00000514856.1:p.Pro526His
ENST00000700202.2:c.9110C>A	ENSP00000514856.2:p.Pro3037His
ENST00000700203.1:n.1288C>A
XM_011535203.1:c.9161C>A	XP_011533505.1:p.Pro3054His
XM_011535204.1:c.9065C>A	XP_011533506.1:p.Pro3022His