Canonical Allele Identifier: CA2695217951

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379431del , CM000675.2:g.32379431del	GRCh38
NC_000013.10:g.32953568del , CM000675.1:g.32953568del	GRCh37
NC_000013.9:g.31851568del	NCBI36
NG_012772.3:g.68952del , LRG_293:g.68952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8869del	ENSP00000434898.2:p.Gln2957LysfsTer19
ENST00000528762.2:c.*236del	ENSP00000433168.2:n.*236del
ENST00000530893.7:c.8500del	ENSP00000499438.2:p.Gln2834LysfsTer19
ENST00000665585.2:c.*431del	ENSP00000499570.2:n.*431del
ENST00000666593.2:c.8869del	ENSP00000499256.2:p.Gln2957LysfsTer19
ENST00000700202.2:c.8869del	ENSP00000514856.2:p.Gln2957LysfsTer19
ENST00000700202.1:c.1336del	ENSP00000514856.1:p.Gln446LysfsTer19
ENST00000700203.1:n.996del
ENST00000380152.8:c.8869del MANE Select	ENSP00000369497.3:p.Gln2957LysfsTer19
ENST00000544455.6:c.8869del	ENSP00000439902.1:p.Gln2957LysfsTer19
ENST00000614259.2:c.8877del	ENSP00000506251.1:n.8877del
ENST00000665585.1:c.1747del
ENST00000680887.1:c.8869del	ENSP00000505508.1:p.Gln2957LysfsTer19
ENST00000380152.7:c.8869del	ENSP00000369497.3:p.Gln2957LysfsTer19
ENST00000528762.1:c.431del	ENSP00000433168.1:n.431del
ENST00000544455.5:c.8869del	ENSP00000439902.1:p.Gln2957LysfsTer19
NM_000059.3:c.8869del , LRG_293t1:c.8869del	NP_000050.2:p.Gln2957LysfsTer19
XM_011535203.1:c.8869del	XP_011533505.1:p.Gln2957LysfsTer19
XM_011535204.1:c.8773del	XP_011533506.1:p.Gln2925LysfsTer19
XM_011535205.1:c.8755-319del	XP_011533507.1:n.8755-319del
NM_000059.4:c.8869del MANE Select	NP_000050.3:p.Gln2957LysfsTer19