Canonical Allele Identifier: CA919242569

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566233272
• gnomAD v4: 13-32340162-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340163del , CM000675.2:g.32340163del	GRCh38
NC_000013.10:g.32914300del , CM000675.1:g.32914300del	GRCh37
NC_000013.9:g.31812300del	NCBI36
NG_012772.3:g.29684del , LRG_293:g.29684del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.5808del	ENSP00000434898.2:p.Met1936IlefsTer27
ENST00000528762.2:c.5808del	ENSP00000433168.2:p.Met1936IlefsTer27
ENST00000530893.7:c.5439del	ENSP00000499438.2:p.Met1813IlefsTer27
ENST00000665585.2:c.5808del	ENSP00000499570.2:p.Met1936IlefsTer27
ENST00000666593.2:c.5808del	ENSP00000499256.2:p.Met1936IlefsTer27
ENST00000700202.2:c.5808del	ENSP00000514856.2:p.Met1936IlefsTer27
ENST00000380152.8:c.5808del MANE Select	ENSP00000369497.3:p.Met1936IlefsTer27
ENST00000544455.6:c.5808del	ENSP00000439902.1:p.Met1936IlefsTer27
ENST00000614259.2:c.5808del	ENSP00000506251.1:p.Met1936IlefsTer27
ENST00000680887.1:c.5808del	ENSP00000505508.1:p.Met1936IlefsTer27
ENST00000380152.7:c.5808del	ENSP00000369497.3:p.Met1936IlefsTer27
ENST00000544455.5:c.5808del	ENSP00000439902.1:p.Met1936IlefsTer27
ENST00000614259.1:n.5808del
NM_000059.3:c.5808del , LRG_293t1:c.5808del	NP_000050.2:p.Met1936IlefsTer27
XM_011535203.1:c.5808del	XP_011533505.1:p.Met1936IlefsTer27
XM_011535204.1:c.5808del	XP_011533506.1:p.Met1936IlefsTer27
XM_011535205.1:c.5808del	XP_011533507.1:p.Met1936IlefsTer27
NM_000059.4:c.5808del MANE Select	NP_000050.3:p.Met1936IlefsTer27