Canonical Allele Identifier: CA2499222358

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137622302

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379784del , CM000675.2:g.32379784del	GRCh38
NC_000013.10:g.32953921del , CM000675.1:g.32953921del	GRCh37
NC_000013.9:g.31851921del	NCBI36
NG_012772.3:g.69305del , LRG_293:g.69305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8988del	ENSP00000434898.2:p.Leu2996PhefsTer5
ENST00000528762.2:c.*355del	ENSP00000433168.2:n.*355del
ENST00000530893.7:c.8619del	ENSP00000499438.2:p.Leu2873PhefsTer5
ENST00000665585.2:c.*550del	ENSP00000499570.2:n.*550del
ENST00000666593.2:c.8988del	ENSP00000499256.2:p.Leu2996PhefsTer5
ENST00000700202.2:c.8954-17del	ENSP00000514856.2:n.8954-17del
ENST00000700202.1:c.1421-17del	ENSP00000514856.1:n.1421-17del
ENST00000700203.1:n.1115del
ENST00000380152.8:c.8988del MANE Select	ENSP00000369497.3:p.Leu2996PhefsTer5
ENST00000544455.6:c.8988del	ENSP00000439902.1:p.Leu2996PhefsTer5
ENST00000614259.2:c.8996del	ENSP00000506251.1:n.8996del
ENST00000665585.1:c.1866del
ENST00000680887.1:c.8988del	ENSP00000505508.1:p.Leu2996PhefsTer5
ENST00000380152.7:c.8988del	ENSP00000369497.3:p.Leu2996PhefsTer5
ENST00000544455.5:c.8988del	ENSP00000439902.1:p.Leu2996PhefsTer5
NM_000059.3:c.8988del , LRG_293t1:c.8988del	NP_000050.2:p.Leu2996PhefsTer5
XM_011535203.1:c.8988del	XP_011533505.1:p.Leu2996PhefsTer5
XM_011535204.1:c.8892del	XP_011533506.1:p.Leu2964PhefsTer5
XM_011535205.1:c.*26del	XP_011533507.1:n.*26del
NM_000059.4:c.8988del MANE Select	NP_000050.3:p.Leu2996PhefsTer5