Canonical Allele Identifier: CA915948634

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 760342
• ClinVar RCV Id: RCV001453413 ; RCV002400067
• dbSNP Id: rs1593202229
• gnomAD v4: 13-32398567-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398571del , CM000675.2:g.32398571del	GRCh38
NC_000013.10:g.32972708del , CM000675.1:g.32972708del	GRCh37
NC_000013.9:g.31870708del	NCBI36
NG_012772.3:g.88092del , LRG_293:g.88092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*581del	ENSP00000434898.2:n.*581del
ENST00000528762.2:c.*1425del	ENSP00000433168.2:n.*1425del
ENST00000530893.7:c.9689del	ENSP00000499438.2:p.Leu3230CysfsTer30
ENST00000665585.2:c.*1620del	ENSP00000499570.2:n.*1620del
ENST00000700202.2:c.10007del	ENSP00000514856.2:p.Leu3336CysfsTer30
ENST00000700202.1:c.2474del	ENSP00000514856.1:p.Leu825CysfsTer30
ENST00000700203.1:n.2185del
ENST00000380152.8:c.10058del MANE Select	ENSP00000369497.3:p.Leu3353CysfsTer30
ENST00000544455.6:c.10058del	ENSP00000439902.1:p.Leu3353CysfsTer30
ENST00000614259.2:c.10066del	ENSP00000506251.1:n.10066del
ENST00000680887.1:c.10058del	ENSP00000505508.1:p.Leu3353CysfsTer30
ENST00000380152.7:c.10058del	ENSP00000369497.3:p.Leu3353CysfsTer30
ENST00000544455.5:c.10058del	ENSP00000439902.1:p.Leu3353CysfsTer30
NM_000059.3:c.10058del , LRG_293t1:c.10058del	NP_000050.2:p.Leu3353CysfsTer30
XM_011535203.1:c.10058del	XP_011533505.1:p.Leu3353CysfsTer30
XM_011535204.1:c.9962del	XP_011533506.1:p.Leu3321CysfsTer30
NM_000059.4:c.10058del MANE Select	NP_000050.3:p.Leu3353CysfsTer30