Canonical Allele Identifier: CA2695217921

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376719del , CM000675.2:g.32376719del	GRCh38
NC_000013.10:g.32950856del , CM000675.1:g.32950856del	GRCh37
NC_000013.9:g.31848856del	NCBI36
NG_012772.3:g.66240del , LRG_293:g.66240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8682del	ENSP00000434898.2:p.Val2895PhefsTer14
ENST00000528762.2:c.*49del	ENSP00000433168.2:n.*49del
ENST00000530893.7:c.8313del	ENSP00000499438.2:p.Val2772PhefsTer14
ENST00000665585.2:c.*244del	ENSP00000499570.2:n.*244del
ENST00000666593.2:c.8682del	ENSP00000499256.2:p.Val2895PhefsTer14
ENST00000700202.2:c.8682del	ENSP00000514856.2:p.Val2895PhefsTer14
ENST00000700202.1:c.1149del	ENSP00000514856.1:p.Val384PhefsTer14
ENST00000700203.1:n.809del
ENST00000380152.8:c.8682del MANE Select	ENSP00000369497.3:p.Val2895PhefsTer14
ENST00000544455.6:c.8682del	ENSP00000439902.1:p.Val2895PhefsTer14
ENST00000614259.2:c.8690del	ENSP00000506251.1:n.8690del
ENST00000665585.1:c.1560del
ENST00000680887.1:c.8682del	ENSP00000505508.1:p.Val2895PhefsTer14
ENST00000380152.7:c.8682del	ENSP00000369497.3:p.Val2895PhefsTer14
ENST00000528762.1:c.244del	ENSP00000433168.1:n.244del
ENST00000544455.5:c.8682del	ENSP00000439902.1:p.Val2895PhefsTer14
NM_000059.3:c.8682del , LRG_293t1:c.8682del	NP_000050.2:p.Val2895PhefsTer14
XM_011535203.1:c.8682del	XP_011533505.1:p.Val2895PhefsTer14
XM_011535204.1:c.8586del	XP_011533506.1:p.Val2863PhefsTer14
XM_011535205.1:c.8682del	XP_011533507.1:p.Val2895PhefsTer14
NM_000059.4:c.8682del MANE Select	NP_000050.3:p.Val2895PhefsTer14