Canonical Allele Identifier: CA025971

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379893del , CM000675.2:g.32379893del	GRCh38
NC_000013.10:g.32954030del , CM000675.1:g.32954030del	GRCh37
NC_000013.9:g.31852030del	NCBI36
NG_012772.3:g.69414del , LRG_293:g.69414del

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9097del MANE Select	NP_000050.3:p.Thr3033LeufsTer29
ENST00000380152.8:c.9097del MANE Select	ENSP00000369497.3:p.Thr3033LeufsTer29
NM_000059.3:c.9097del , LRG_293t1:c.9097del	NP_000050.2:p.Thr3033LeufsTer29
ENST00000380152.7:c.9097del	ENSP00000369497.3:p.Thr3033LeufsTer29
ENST00000470094.1:c.54del
ENST00000470094.2:c.9097del	ENSP00000434898.2:p.Thr3033LeufsTer29
ENST00000528762.2:c.*464del	ENSP00000433168.2:n.*464del
ENST00000530893.7:c.8728del	ENSP00000499438.2:p.Thr2910LeufsTer29
ENST00000544455.5:c.9097del	ENSP00000439902.1:p.Thr3033LeufsTer29
ENST00000544455.6:c.9097del	ENSP00000439902.1:p.Thr3033LeufsTer29
ENST00000614259.2:c.9105del	ENSP00000506251.1:n.9105del
ENST00000665585.1:c.1975del
ENST00000665585.2:c.*659del	ENSP00000499570.2:n.*659del
ENST00000666593.2:c.9097del	ENSP00000499256.2:p.Thr3033LeufsTer29
ENST00000680887.1:c.9097del	ENSP00000505508.1:p.Thr3033LeufsTer29
ENST00000700202.1:c.1513del	ENSP00000514856.1:p.Thr505LeufsTer29
ENST00000700202.2:c.9046del	ENSP00000514856.2:p.Thr3016LeufsTer29
ENST00000700203.1:n.1224del
XM_011535203.1:c.9097del	XP_011533505.1:p.Thr3033LeufsTer29
XM_011535204.1:c.9001del	XP_011533506.1:p.Thr3001LeufsTer29