Canonical Allele Identifier: CA025015

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52302
• ClinVar RCV Id: RCV000045180 ; RCV000077400 ; RCV000162898 ; RCV000482942 ; RCV003460609
• dbSNP Id: rs80359645
• MyVariant Identifiers: chr13:g.32905103_32905106del (hg19) ; chr13:g.32330966_32330969del (hg38)
• PubMed: PMID:16030099 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32330966_32330969del , CM000675.2:g.32330966_32330969del	GRCh38
NC_000013.10:g.32905103_32905106del , CM000675.1:g.32905103_32905106del	GRCh37
NC_000013.9:g.31803103_31803106del	NCBI36
NG_012772.3:g.20487_20490del , LRG_293:g.20487_20490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.729_732del	ENSP00000434898.2:p.Asn243LysfsTer7
ENST00000528762.2:c.729_732del	ENSP00000433168.2:p.Asn243LysfsTer7
ENST00000530893.7:c.360_363del	ENSP00000499438.2:p.Asn120LysfsTer7
ENST00000665585.2:c.729_732del	ENSP00000499570.2:p.Asn243LysfsTer7
ENST00000666593.2:c.729_732del	ENSP00000499256.2:p.Asn243LysfsTer7
ENST00000700202.2:c.729_732del	ENSP00000514856.2:p.Asn243LysfsTer7
ENST00000700201.1:c.*508_*511del	ENSP00000514855.1:n.*508_*511del
ENST00000380152.8:c.729_732del MANE Select	ENSP00000369497.3:p.Asn243LysfsTer7
ENST00000544455.6:c.729_732del	ENSP00000439902.1:p.Asn243LysfsTer7
ENST00000614259.2:c.729_732del	ENSP00000506251.1:p.Asn243LysfsTer7
ENST00000680887.1:c.729_732del	ENSP00000505508.1:p.Asn243LysfsTer7
ENST00000380152.7:c.729_732del	ENSP00000369497.3:p.Asn243LysfsTer7
ENST00000530893.6:n.927_930del
ENST00000544455.5:c.729_732del	ENSP00000439902.1:p.Asn243LysfsTer7
ENST00000614259.1:n.729_732del
NM_000059.3:c.729_732del , LRG_293t1:c.729_732del	NP_000050.2:p.Asn243LysfsTer7
XM_011535203.1:c.729_732del	XP_011533505.1:p.Asn243LysfsTer7
XM_011535204.1:c.729_732del	XP_011533506.1:p.Asn243LysfsTer7
XM_011535205.1:c.729_732del	XP_011533507.1:p.Asn243LysfsTer7
NM_000059.4:c.729_732del MANE Select	NP_000050.3:p.Asn243LysfsTer7