Canonical Allele Identifier: CA026341

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 96890
• ClinVar RCV Id: RCV000083011 ; RCV000204290 ; RCV000160314 ; RCV000165269 ; RCV001193143 ; RCV004528778 ; RCV003460763
• dbSNP Id: rs431825381
• ExAC: 13:32972589 GA / G
• gnomAD v2: 13-32972589-GA-G
• gnomAD v3: 13-32398452-GA-G
• gnomAD v4: 13-32398452-GA-G
• MyVariant Identifiers: chr13:g.32972595del (hg19) ; chr13:g.32972590del (hg19) ; chr13:g.32398458del (hg38) ; chr13:g.32398454del (hg38) ; chr13:g.32398453del (hg38)
• PubMed: PMID:8896551 ; PMID:18607349

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398458del , CM000675.2:g.32398458del	GRCh38
NC_000013.10:g.32972595del , CM000675.1:g.32972595del	GRCh37
NC_000013.9:g.31870595del	NCBI36
NG_012772.3:g.87979del , LRG_293:g.87979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*468del	ENSP00000434898.2:n.*468del
ENST00000528762.2:c.*1312del	ENSP00000433168.2:n.*1312del
ENST00000530893.7:c.9576del	ENSP00000499438.2:p.Glu3193AsnfsTer2
ENST00000665585.2:c.*1507del	ENSP00000499570.2:n.*1507del
ENST00000700202.2:c.9894del	ENSP00000514856.2:p.Glu3299AsnfsTer2
ENST00000700202.1:c.2361del	ENSP00000514856.1:p.Glu788AsnfsTer2
ENST00000700203.1:n.2072del
ENST00000380152.8:c.9945del MANE Select	ENSP00000369497.3:p.Glu3316AsnfsTer2
ENST00000544455.6:c.9945del	ENSP00000439902.1:p.Glu3316AsnfsTer2
ENST00000614259.2:c.9953del	ENSP00000506251.1:n.9953del
ENST00000680887.1:c.9945del	ENSP00000505508.1:p.Glu3316AsnfsTer2
ENST00000380152.7:c.9945del	ENSP00000369497.3:p.Glu3316AsnfsTer2
ENST00000544455.5:c.9945del	ENSP00000439902.1:p.Glu3316AsnfsTer2
NM_000059.3:c.9945del , LRG_293t1:c.9945del	NP_000050.2:p.Glu3316AsnfsTer2
XM_011535203.1:c.9945del	XP_011533505.1:p.Glu3316AsnfsTer2
XM_011535204.1:c.9849del	XP_011533506.1:p.Glu3284AsnfsTer2
NM_000059.4:c.9945del MANE Select	NP_000050.3:p.Glu3316AsnfsTer2