Canonical Allele Identifier: CA2695217948

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379412_32379421del , CM000675.2:g.32379412_32379421del	GRCh38
NC_000013.10:g.32953549_32953558del , CM000675.1:g.32953549_32953558del	GRCh37
NC_000013.9:g.31851549_31851558del	NCBI36
NG_012772.3:g.68933_68942del , LRG_293:g.68933_68942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8850_8859del	ENSP00000434898.2:p.Lys2950AsnfsTer23
ENST00000528762.2:c.*217_*226del	ENSP00000433168.2:n.*217_*226del
ENST00000530893.7:c.8481_8490del	ENSP00000499438.2:p.Lys2827AsnfsTer23
ENST00000665585.2:c.*412_*421del	ENSP00000499570.2:n.*412_*421del
ENST00000666593.2:c.8850_8859del	ENSP00000499256.2:p.Lys2950AsnfsTer23
ENST00000700202.2:c.8850_8859del	ENSP00000514856.2:p.Lys2950AsnfsTer23
ENST00000700202.1:c.1317_1326del	ENSP00000514856.1:p.Lys439AsnfsTer23
ENST00000700203.1:n.977_986del
ENST00000380152.8:c.8850_8859del MANE Select	ENSP00000369497.3:p.Lys2950AsnfsTer23
ENST00000544455.6:c.8850_8859del	ENSP00000439902.1:p.Lys2950AsnfsTer23
ENST00000614259.2:c.8858_8867del	ENSP00000506251.1:n.8858_8867del
ENST00000665585.1:c.1728_1737del
ENST00000680887.1:c.8850_8859del	ENSP00000505508.1:p.Lys2950AsnfsTer23
ENST00000380152.7:c.8850_8859del	ENSP00000369497.3:p.Lys2950AsnfsTer23
ENST00000528762.1:c.412_421del	ENSP00000433168.1:n.412_421del
ENST00000544455.5:c.8850_8859del	ENSP00000439902.1:p.Lys2950AsnfsTer23
NM_000059.3:c.8850_8859del , LRG_293t1:c.8850_8859del	NP_000050.2:p.Lys2950AsnfsTer23
XM_011535203.1:c.8850_8859del	XP_011533505.1:p.Lys2950AsnfsTer23
XM_011535204.1:c.8754_8763del	XP_011533506.1:p.Lys2918AsnfsTer23
XM_011535205.1:c.8755-338_8755-329del	XP_011533507.1:n.8755-338_8755-329del
NM_000059.4:c.8850_8859del MANE Select	NP_000050.3:p.Lys2950AsnfsTer23