Canonical Allele Identifier: CA2580087471

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1768653
• ClinVar RCV Id: RCV002382870
• gnomAD v4: 13-32398443-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398446del , CM000675.2:g.32398446del	GRCh38
NC_000013.10:g.32972583del , CM000675.1:g.32972583del	GRCh37
NC_000013.9:g.31870583del	NCBI36
NG_012772.3:g.87967del , LRG_293:g.87967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*456del	ENSP00000434898.2:n.*456del
ENST00000528762.2:c.*1300del	ENSP00000433168.2:n.*1300del
ENST00000530893.7:c.9564del	ENSP00000499438.2:p.Ile3189Ter
ENST00000665585.2:c.*1495del	ENSP00000499570.2:n.*1495del
ENST00000700202.2:c.9882del	ENSP00000514856.2:p.Ile3295Ter
ENST00000700202.1:c.2349del	ENSP00000514856.1:p.Ile784Ter
ENST00000700203.1:n.2060del
ENST00000380152.8:c.9933del MANE Select	ENSP00000369497.3:p.Ile3312Ter
ENST00000544455.6:c.9933del	ENSP00000439902.1:p.Ile3312Ter
ENST00000614259.2:c.9941del	ENSP00000506251.1:n.9941del
ENST00000680887.1:c.9933del	ENSP00000505508.1:p.Ile3312Ter
ENST00000380152.7:c.9933del	ENSP00000369497.3:p.Ile3312Ter
ENST00000533776.1:n.521del
ENST00000544455.5:c.9933del	ENSP00000439902.1:p.Ile3312Ter
NM_000059.3:c.9933del , LRG_293t1:c.9933del	NP_000050.2:p.Ile3312Ter
XM_011535203.1:c.9933del	XP_011533505.1:p.Ile3312Ter
XM_011535204.1:c.9837del	XP_011533506.1:p.Ile3280Ter
NM_000059.4:c.9933del MANE Select	NP_000050.3:p.Ile3312Ter