Canonical Allele Identifier: CA2580087480

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1703204
• ClinVar RCV Id: RCV002280327
• gnomAD v4: 13-32398488-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398494del , CM000675.2:g.32398494del	GRCh38
NC_000013.10:g.32972631del , CM000675.1:g.32972631del	GRCh37
NC_000013.9:g.31870631del	NCBI36
NG_012772.3:g.88015del , LRG_293:g.88015del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*504del	ENSP00000434898.2:n.*504del
ENST00000528762.2:c.*1348del	ENSP00000433168.2:n.*1348del
ENST00000530893.7:c.9612del	ENSP00000499438.2:p.Lys3204AsnfsTer13
ENST00000665585.2:c.*1543del	ENSP00000499570.2:n.*1543del
ENST00000700202.2:c.9930del	ENSP00000514856.2:p.Lys3310AsnfsTer13
ENST00000700202.1:c.2397del	ENSP00000514856.1:p.Lys799AsnfsTer13
ENST00000700203.1:n.2108del
ENST00000380152.8:c.9981del MANE Select	ENSP00000369497.3:p.Lys3327AsnfsTer13
ENST00000544455.6:c.9981del	ENSP00000439902.1:p.Lys3327AsnfsTer13
ENST00000614259.2:c.9989del	ENSP00000506251.1:n.9989del
ENST00000680887.1:c.9981del	ENSP00000505508.1:p.Lys3327AsnfsTer13
ENST00000380152.7:c.9981del	ENSP00000369497.3:p.Lys3327AsnfsTer13
ENST00000544455.5:c.9981del	ENSP00000439902.1:p.Lys3327AsnfsTer13
NM_000059.3:c.9981del , LRG_293t1:c.9981del	NP_000050.2:p.Lys3327AsnfsTer13
XM_011535203.1:c.9981del	XP_011533505.1:p.Lys3327AsnfsTer13
XM_011535204.1:c.9885del	XP_011533506.1:p.Lys3295AsnfsTer13
NM_000059.4:c.9981del MANE Select	NP_000050.3:p.Lys3327AsnfsTer13