Canonical Allele Identifier: CA2580087072

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1757470
• ClinVar RCV Id: RCV002378389 ; RCV003475356
• gnomAD v4: 13-32330952-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32330953del , CM000675.2:g.32330953del	GRCh38
NC_000013.10:g.32905090del , CM000675.1:g.32905090del	GRCh37
NC_000013.9:g.31803090del	NCBI36
NG_012772.3:g.20474del , LRG_293:g.20474del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.716del	ENSP00000434898.2:p.Ser239IlefsTer2
ENST00000528762.2:c.716del	ENSP00000433168.2:p.Ser239IlefsTer2
ENST00000530893.7:c.347del	ENSP00000499438.2:p.Ser116IlefsTer2
ENST00000665585.2:c.716del	ENSP00000499570.2:p.Ser239IlefsTer2
ENST00000666593.2:c.716del	ENSP00000499256.2:p.Ser239IlefsTer2
ENST00000700202.2:c.716del	ENSP00000514856.2:p.Ser239IlefsTer2
ENST00000700201.1:c.*495del	ENSP00000514855.1:n.*495del
ENST00000380152.8:c.716del MANE Select	ENSP00000369497.3:p.Ser239IlefsTer2
ENST00000544455.6:c.716del	ENSP00000439902.1:p.Ser239IlefsTer2
ENST00000614259.2:c.716del	ENSP00000506251.1:p.Ser239IlefsTer2
ENST00000680887.1:c.716del	ENSP00000505508.1:p.Ser239IlefsTer2
ENST00000380152.7:c.716del	ENSP00000369497.3:p.Ser239IlefsTer2
ENST00000530893.6:n.914del
ENST00000544455.5:c.716del	ENSP00000439902.1:p.Ser239IlefsTer2
ENST00000614259.1:n.716del
NM_000059.3:c.716del , LRG_293t1:c.716del	NP_000050.2:p.Ser239IlefsTer2
XM_011535203.1:c.716del	XP_011533505.1:p.Ser239IlefsTer2
XM_011535204.1:c.716del	XP_011533506.1:p.Ser239IlefsTer2
XM_011535205.1:c.716del	XP_011533507.1:p.Ser239IlefsTer2
NM_000059.4:c.716del MANE Select	NP_000050.3:p.Ser239IlefsTer2