Canonical Allele Identifier: CA2953903126

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398447del , CM000675.2:g.32398447del	GRCh38
NC_000013.10:g.32972584del , CM000675.1:g.32972584del	GRCh37
NC_000013.9:g.31870584del	NCBI36
NG_012772.3:g.87968del , LRG_293:g.87968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*457del	ENSP00000434898.2:n.*457del
ENST00000528762.2:c.*1301del	ENSP00000433168.2:n.*1301del
ENST00000530893.7:c.9565del	ENSP00000499438.2:p.Ile3189Ter
ENST00000665585.2:c.*1496del	ENSP00000499570.2:n.*1496del
ENST00000700202.2:c.9883del	ENSP00000514856.2:p.Ile3295Ter
ENST00000700202.1:c.2350del	ENSP00000514856.1:p.Ile784Ter
ENST00000700203.1:n.2061del
ENST00000380152.8:c.9934del MANE Select	ENSP00000369497.3:p.Ile3312Ter
ENST00000544455.6:c.9934del	ENSP00000439902.1:p.Ile3312Ter
ENST00000614259.2:c.9942del	ENSP00000506251.1:n.9942del
ENST00000680887.1:c.9934del	ENSP00000505508.1:p.Ile3312Ter
ENST00000380152.7:c.9934del	ENSP00000369497.3:p.Ile3312Ter
ENST00000533776.1:n.522del
ENST00000544455.5:c.9934del	ENSP00000439902.1:p.Ile3312Ter
NM_000059.3:c.9934del , LRG_293t1:c.9934del	NP_000050.2:p.Ile3312Ter
XM_011535203.1:c.9934del	XP_011533505.1:p.Ile3312Ter
XM_011535204.1:c.9838del	XP_011533506.1:p.Ile3280Ter
NM_000059.4:c.9934del MANE Select	NP_000050.3:p.Ile3312Ter