Canonical Allele Identifier: CA387757909

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380040C>A , CM000675.2:g.32380040C>A	GRCh38
NC_000013.10:g.32954177C>A , CM000675.1:g.32954177C>A	GRCh37
NC_000013.9:g.31852177C>A	NCBI36
NG_012772.3:g.69561C>A , LRG_293:g.69561C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9151C>A MANE Select	NP_000050.3:p.Pro3051Thr
ENST00000380152.8:c.9151C>A MANE Select	ENSP00000369497.3:p.Pro3051Thr
NM_000059.3:c.9151C>A , LRG_293t1:c.9151C>A	NP_000050.2:p.Pro3051Thr
ENST00000380152.7:c.9151C>A	ENSP00000369497.3:p.Pro3051Thr
ENST00000470094.1:c.108C>A
ENST00000470094.2:c.9151C>A	ENSP00000434898.2:p.Pro3051Thr
ENST00000528762.2:c.*518C>A	ENSP00000433168.2:n.*518C>A
ENST00000530893.7:c.8782C>A	ENSP00000499438.2:p.Pro2928Thr
ENST00000544455.5:c.9151C>A	ENSP00000439902.1:p.Pro3051Thr
ENST00000544455.6:c.9151C>A	ENSP00000439902.1:p.Pro3051Thr
ENST00000614259.2:c.9159C>A	ENSP00000506251.1:n.9159C>A
ENST00000665585.1:c.2029C>A
ENST00000665585.2:c.*713C>A	ENSP00000499570.2:n.*713C>A
ENST00000666593.1:c.34C>A	ENSP00000499256.1:p.Pro12Thr
ENST00000666593.2:c.9151C>A	ENSP00000499256.2:p.Pro3051Thr
ENST00000680887.1:c.9151C>A	ENSP00000505508.1:p.Pro3051Thr
ENST00000700202.1:c.1567C>A	ENSP00000514856.1:p.Pro523Thr
ENST00000700202.2:c.9100C>A	ENSP00000514856.2:p.Pro3034Thr
ENST00000700203.1:n.1278C>A
XM_011535203.1:c.9151C>A	XP_011533505.1:p.Pro3051Thr
XM_011535204.1:c.9055C>A	XP_011533506.1:p.Pro3019Thr