Canonical Allele Identifier: CA026261

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52888
• ClinVar RCV Id: RCV000114150 ; RCV000130019 ; RCV000496370 ; RCV000785232
• dbSNP Id: rs80359772
• ExAC: 13:32972315 GT / G
• gnomAD v2: 13-32972315-GT-G
• gnomAD v4: 13-32398178-GT-G
• MyVariant Identifiers: chr13:g.32972316del (hg19) ; chr13:g.32398179del (hg38)
• PubMed: PMID:11179017 ; PMID:11897832 ; PMID:21913181 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398179del , CM000675.2:g.32398179del	GRCh38
NC_000013.10:g.32972316del , CM000675.1:g.32972316del	GRCh37
NC_000013.9:g.31870316del	NCBI36
NG_012772.3:g.87700del , LRG_293:g.87700del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*189del	ENSP00000434898.2:n.*189del
ENST00000528762.2:c.*1033del	ENSP00000433168.2:n.*1033del
ENST00000530893.7:c.9297del	ENSP00000499438.2:p.Cys3099TrpfsTer27
ENST00000665585.2:c.*1228del	ENSP00000499570.2:n.*1228del
ENST00000700202.2:c.9615del	ENSP00000514856.2:p.Cys3205TrpfsTer27
ENST00000700202.1:c.2082del	ENSP00000514856.1:p.Cys694TrpfsTer27
ENST00000700203.1:n.1793del
ENST00000380152.8:c.9666del MANE Select	ENSP00000369497.3:p.Cys3222TrpfsTer27
ENST00000544455.6:c.9666del	ENSP00000439902.1:p.Cys3222TrpfsTer27
ENST00000614259.2:c.9674del	ENSP00000506251.1:n.9674del
ENST00000665585.1:c.2544del
ENST00000680887.1:c.9666del	ENSP00000505508.1:p.Cys3222TrpfsTer27
ENST00000380152.7:c.9666del	ENSP00000369497.3:p.Cys3222TrpfsTer27
ENST00000470094.1:c.749del
ENST00000533776.1:n.254del
ENST00000544455.5:c.9666del	ENSP00000439902.1:p.Cys3222TrpfsTer27
NM_000059.3:c.9666del , LRG_293t1:c.9666del	NP_000050.2:p.Cys3222TrpfsTer27
XM_011535203.1:c.9666del	XP_011533505.1:p.Cys3222TrpfsTer27
XM_011535204.1:c.9570del	XP_011533506.1:p.Cys3190TrpfsTer27
NM_000059.4:c.9666del MANE Select	NP_000050.3:p.Cys3222TrpfsTer27