Canonical Allele Identifier: CA022568

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 141788
• ClinVar RCV Id: RCV000130434 ; RCV000241428 ; RCV000496921 ; RCV001353624
• dbSNP Id: rs587782011
• COSMIC: COSM23950
• MyVariant Identifiers: chr13:g.32914049del (hg19) ; chr13:g.32914047del (hg19) ; chr13:g.32339912del (hg38)
• PubMed: PMID:12237285

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339912del , CM000675.2:g.32339912del	GRCh38
NC_000013.10:g.32914049del , CM000675.1:g.32914049del	GRCh37
NC_000013.9:g.31812049del	NCBI36
NG_012772.3:g.29433del , LRG_293:g.29433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5557del	ENSP00000434898.2:p.Cys1853ValfsTer10
ENST00000528762.2:c.5557del	ENSP00000433168.2:p.Cys1853ValfsTer10
ENST00000530893.7:c.5188del	ENSP00000499438.2:p.Cys1730ValfsTer10
ENST00000665585.2:c.5557del	ENSP00000499570.2:p.Cys1853ValfsTer10
ENST00000666593.2:c.5557del	ENSP00000499256.2:p.Cys1853ValfsTer10
ENST00000700202.2:c.5557del	ENSP00000514856.2:p.Cys1853ValfsTer10
ENST00000380152.8:c.5557del MANE Select	ENSP00000369497.3:p.Cys1853ValfsTer10
ENST00000544455.6:c.5557del	ENSP00000439902.1:p.Cys1853ValfsTer10
ENST00000614259.2:c.5557del	ENSP00000506251.1:p.Cys1853ValfsTer10
ENST00000680887.1:c.5557del	ENSP00000505508.1:p.Cys1853ValfsTer10
ENST00000380152.7:c.5557del	ENSP00000369497.3:p.Cys1853ValfsTer10
ENST00000544455.5:c.5557del	ENSP00000439902.1:p.Cys1853ValfsTer10
ENST00000614259.1:n.5557del
NM_000059.3:c.5557del , LRG_293t1:c.5557del	NP_000050.2:p.Cys1853ValfsTer10
XM_011535203.1:c.5557del	XP_011533505.1:p.Cys1853ValfsTer10
XM_011535204.1:c.5557del	XP_011533506.1:p.Cys1853ValfsTer10
XM_011535205.1:c.5557del	XP_011533507.1:p.Cys1853ValfsTer10
NM_000059.4:c.5557del MANE Select	NP_000050.3:p.Cys1853ValfsTer10