Canonical Allele Identifier: CA919242566

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566215971

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319248_32319252del , CM000675.2:g.32319248_32319252del	GRCh38
NC_000013.10:g.32893385_32893389del , CM000675.1:g.32893385_32893389del	GRCh37
NC_000013.9:g.31791385_31791389del	NCBI36
NG_012772.3:g.8769_8773del , LRG_293:g.8769_8773del
NG_017006.2:g.1112_1116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.239_243del	ENSP00000434898.2:p.Ile80LysfsTer19
ENST00000528762.2:c.239_243del	ENSP00000433168.2:p.Ile80LysfsTer19
ENST00000530893.7:c.-131_-127del	ENSP00000499438.2:n.-131_-127del
ENST00000665585.2:c.239_243del	ENSP00000499570.2:p.Ile80LysfsTer19
ENST00000666593.2:c.239_243del	ENSP00000499256.2:p.Ile80LysfsTer19
ENST00000700202.2:c.239_243del	ENSP00000514856.2:p.Ile80LysfsTer19
ENST00000700200.1:n.191+2721_191+2725del
ENST00000700201.1:c.239_243del	ENSP00000514855.1:p.Ile80LysfsTer19
ENST00000380152.8:c.239_243del MANE Select	ENSP00000369497.3:p.Ile80LysfsTer19
ENST00000544455.6:c.239_243del	ENSP00000439902.1:p.Ile80LysfsTer19
ENST00000614259.2:c.239_243del	ENSP00000506251.1:p.Ile80LysfsTer19
ENST00000680887.1:c.239_243del	ENSP00000505508.1:p.Ile80LysfsTer19
ENST00000380152.7:c.239_243del	ENSP00000369497.3:p.Ile80LysfsTer19
ENST00000530893.6:n.437_441del
ENST00000544455.5:c.239_243del	ENSP00000439902.1:p.Ile80LysfsTer19
ENST00000614259.1:n.239_243del
NM_000059.3:c.239_243del , LRG_293t1:c.239_243del	NP_000050.2:p.Ile80LysfsTer19
XM_011535203.1:c.239_243del	XP_011533505.1:p.Ile80LysfsTer19
XM_011535204.1:c.239_243del	XP_011533506.1:p.Ile80LysfsTer19
XM_011535205.1:c.239_243del	XP_011533507.1:p.Ile80LysfsTer19
NM_000059.4:c.239_243del MANE Select	NP_000050.3:p.Ile80LysfsTer19