Canonical Allele Identifier: CA025216

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52379
• ClinVar RCV Id: RCV000256979 ; RCV001026692
• dbSNP Id: rs397507928
• MyVariant Identifiers: chr13:g.32931932del (hg19) ; chr13:g.32357795del (hg38)
• PubMed: PMID:22762150

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32357795del , CM000675.2:g.32357795del	GRCh38
NC_000013.10:g.32931932del , CM000675.1:g.32931932del	GRCh37
NC_000013.9:g.31829932del	NCBI36
NG_012772.3:g.47316del , LRG_293:g.47316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7671del	ENSP00000434898.2:p.Glu2558SerfsTer?
ENST00000528762.2:c.7671del	ENSP00000433168.2:p.Glu2558SerfsTer?
ENST00000530893.7:c.7302del	ENSP00000499438.2:p.Glu2435SerfsTer?
ENST00000665585.2:c.7671del	ENSP00000499570.2:p.Glu2558SerfsTer?
ENST00000666593.2:c.7671del	ENSP00000499256.2:p.Glu2558SerfsTer?
ENST00000700202.2:c.7671del	ENSP00000514856.2:p.Glu2558SerfsTer?
ENST00000700202.1:c.138del	ENSP00000514856.1:p.Glu47SerfsTer?
ENST00000380152.8:c.7671del MANE Select	ENSP00000369497.3:p.Glu2558SerfsTer?
ENST00000544455.6:c.7671del	ENSP00000439902.1:p.Glu2558SerfsTer?
ENST00000614259.2:c.7671del	ENSP00000506251.1:p.Glu2558SerfsTer?
ENST00000665585.1:c.236del
ENST00000680887.1:c.7671del	ENSP00000505508.1:p.Glu2558SerfsTer?
ENST00000380152.7:c.7671del	ENSP00000369497.3:p.Glu2558SerfsTer?
ENST00000544455.5:c.7671del	ENSP00000439902.1:p.Glu2558SerfsTer?
ENST00000614259.1:n.7671del
NM_000059.3:c.7671del , LRG_293t1:c.7671del	NP_000050.2:p.Glu2558SerfsTer?
XM_011535203.1:c.7671del	XP_011533505.1:p.Glu2558SerfsTer?
XM_011535204.1:c.7575del	XP_011533506.1:p.Glu2526SerfsTer?
XM_011535205.1:c.7671del	XP_011533507.1:p.Glu2558SerfsTer?
NM_000059.4:c.7671del MANE Select	NP_000050.3:p.Glu2558SerfsTer?