Canonical Allele Identifier: CA025258

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38119
• ClinVar RCV Id: RCV003460530
• dbSNP Id: rs80359677
• MyVariant Identifiers: chr13:g.32905152_32905153del (hg19) ; chr13:g.32905149_32905150del (hg19) ; chr13:g.32331015_32331016del (hg38) ; chr13:g.32331012_32331013del (hg38)
• PubMed: PMID:8673090 ; PMID:26295337 ; PMID:26681312 ; PMID:28008555

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32331015_32331016del , CM000675.2:g.32331015_32331016del	GRCh38
NC_000013.10:g.32905152_32905153del , CM000675.1:g.32905152_32905153del	GRCh37
NC_000013.9:g.31803152_31803153del	NCBI36
NG_012772.3:g.20536_20537del , LRG_293:g.20536_20537del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.778_779del	ENSP00000434898.2:p.Glu260SerfsTer15
ENST00000528762.2:c.778_779del	ENSP00000433168.2:p.Glu260SerfsTer15
ENST00000530893.7:c.409_410del	ENSP00000499438.2:p.Glu137SerfsTer15
ENST00000665585.2:c.778_779del	ENSP00000499570.2:p.Glu260SerfsTer15
ENST00000666593.2:c.778_779del	ENSP00000499256.2:p.Glu260SerfsTer15
ENST00000700202.2:c.778_779del	ENSP00000514856.2:p.Glu260SerfsTer15
ENST00000700201.1:c.*557_*558del	ENSP00000514855.1:n.*557_*558del
ENST00000380152.8:c.778_779del MANE Select	ENSP00000369497.3:p.Glu260SerfsTer15
ENST00000544455.6:c.778_779del	ENSP00000439902.1:p.Glu260SerfsTer15
ENST00000614259.2:c.778_779del	ENSP00000506251.1:p.Glu260SerfsTer15
ENST00000680887.1:c.778_779del	ENSP00000505508.1:p.Glu260SerfsTer15
ENST00000380152.7:c.778_779del	ENSP00000369497.3:p.Glu260SerfsTer15
ENST00000530893.6:n.976_977del
ENST00000544455.5:c.778_779del	ENSP00000439902.1:p.Glu260SerfsTer15
ENST00000614259.1:n.778_779del
NM_000059.3:c.778_779del , LRG_293t1:c.778_779del	NP_000050.2:p.Glu260SerfsTer15
XM_011535203.1:c.778_779del	XP_011533505.1:p.Glu260SerfsTer15
XM_011535204.1:c.778_779del	XP_011533506.1:p.Glu260SerfsTer15
XM_011535205.1:c.778_779del	XP_011533507.1:p.Glu260SerfsTer15
NM_000059.4:c.778_779del MANE Select	NP_000050.3:p.Glu260SerfsTer15