Canonical Allele Identifier: CA2695217954

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379464dup , CM000675.2:g.32379464dup	GRCh38
NC_000013.10:g.32953601dup , CM000675.1:g.32953601dup	GRCh37
NC_000013.9:g.31851601dup	NCBI36
NG_012772.3:g.68985dup , LRG_293:g.68985dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8902dup	ENSP00000434898.2:p.Thr2968AsnfsTer?
ENST00000528762.2:c.*269dup	ENSP00000433168.2:n.*269dup
ENST00000530893.7:c.8533dup	ENSP00000499438.2:p.Thr2845AsnfsTer?
ENST00000665585.2:c.*464dup	ENSP00000499570.2:n.*464dup
ENST00000666593.2:c.8902dup	ENSP00000499256.2:p.Thr2968AsnfsTer?
ENST00000700202.2:c.8902dup	ENSP00000514856.2:p.Thr2968AsnfsTer?
ENST00000700202.1:c.1369dup	ENSP00000514856.1:p.Thr457AsnfsTer?
ENST00000700203.1:n.1029dup
ENST00000380152.8:c.8902dup MANE Select	ENSP00000369497.3:p.Thr2968AsnfsTer?
ENST00000544455.6:c.8902dup	ENSP00000439902.1:p.Thr2968AsnfsTer?
ENST00000614259.2:c.8910dup	ENSP00000506251.1:n.8910dup
ENST00000665585.1:c.1780dup
ENST00000680887.1:c.8902dup	ENSP00000505508.1:p.Thr2968AsnfsTer?
ENST00000380152.7:c.8902dup	ENSP00000369497.3:p.Thr2968AsnfsTer?
ENST00000528762.1:c.464dup	ENSP00000433168.1:n.464dup
ENST00000544455.5:c.8902dup	ENSP00000439902.1:p.Thr2968AsnfsTer?
NM_000059.3:c.8902dup , LRG_293t1:c.8902dup	NP_000050.2:p.Thr2968AsnfsTer?
XM_011535203.1:c.8902dup	XP_011533505.1:p.Thr2968AsnfsTer?
XM_011535204.1:c.8806dup	XP_011533506.1:p.Thr2936AsnfsTer?
XM_011535205.1:c.8755-286dup	XP_011533507.1:n.8755-286dup
NM_000059.4:c.8902dup MANE Select	NP_000050.3:p.Thr2968AsnfsTer?