Canonical Allele Identifier: CA025884

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52706
• ClinVar RCV Id: RCV000256733
• dbSNP Id: rs80359733
• gnomAD v4: 13-32379503-GA-G
• MyVariant Identifiers: chr13:g.32953645del (hg19) ; chr13:g.32379508del (hg38)
• PubMed: PMID:12373604

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379508del , CM000675.2:g.32379508del	GRCh38
NC_000013.10:g.32953645del , CM000675.1:g.32953645del	GRCh37
NC_000013.9:g.31851645del	NCBI36
NG_012772.3:g.69029del , LRG_293:g.69029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8946del	ENSP00000434898.2:p.Asp2983IlefsTer5
ENST00000528762.2:c.*313del	ENSP00000433168.2:n.*313del
ENST00000530893.7:c.8577del	ENSP00000499438.2:p.Asp2860IlefsTer5
ENST00000665585.2:c.*508del	ENSP00000499570.2:n.*508del
ENST00000666593.2:c.8946del	ENSP00000499256.2:p.Asp2983IlefsTer5
ENST00000700202.2:c.8946del	ENSP00000514856.2:p.Asp2983IlefsTer28
ENST00000700202.1:c.1413del	ENSP00000514856.1:p.Asp472IlefsTer28
ENST00000700203.1:n.1073del
ENST00000380152.8:c.8946del MANE Select	ENSP00000369497.3:p.Asp2983IlefsTer5
ENST00000544455.6:c.8946del	ENSP00000439902.1:p.Asp2983IlefsTer5
ENST00000614259.2:c.8954del	ENSP00000506251.1:n.8954del
ENST00000665585.1:c.1824del
ENST00000680887.1:c.8946del	ENSP00000505508.1:p.Asp2983IlefsTer5
ENST00000380152.7:c.8946del	ENSP00000369497.3:p.Asp2983IlefsTer5
ENST00000544455.5:c.8946del	ENSP00000439902.1:p.Asp2983IlefsTer5
NM_000059.3:c.8946del , LRG_293t1:c.8946del	NP_000050.2:p.Asp2983IlefsTer5
XM_011535203.1:c.8946del	XP_011533505.1:p.Asp2983IlefsTer5
XM_011535204.1:c.8850del	XP_011533506.1:p.Asp2951IlefsTer5
XM_011535205.1:c.8755-242del	XP_011533507.1:n.8755-242del
NM_000059.4:c.8946del MANE Select	NP_000050.3:p.Asp2983IlefsTer5