Canonical Allele Identifier: CA16619785

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 418600
• ClinVar RCV Id: RCV001813485
• dbSNP Id: rs80359732
• gnomAD v2: 13-32953632-CA-C
• COSMIC: COSM4666060 ; COSM4666061
• MyVariant Identifiers: chr13:g.32953639del (hg19) ; chr13:g.32953633del (hg19) ; chr13:g.32379502del (hg38) ; chr13:g.32379496del (hg38)
• PubMed: PMID:26824983

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379502del , CM000675.2:g.32379502del	GRCh38
NC_000013.10:g.32953639del , CM000675.1:g.32953639del	GRCh37
NC_000013.9:g.31851639del	NCBI36
NG_012772.3:g.69023del , LRG_293:g.69023del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8940del	ENSP00000434898.2:p.Glu2981LysfsTer7
ENST00000528762.2:c.*307del	ENSP00000433168.2:n.*307del
ENST00000530893.7:c.8571del	ENSP00000499438.2:p.Glu2858LysfsTer7
ENST00000665585.2:c.*502del	ENSP00000499570.2:n.*502del
ENST00000666593.2:c.8940del	ENSP00000499256.2:p.Glu2981LysfsTer7
ENST00000700202.2:c.8940del	ENSP00000514856.2:p.Glu2981LysfsTer?
ENST00000700202.1:c.1407del	ENSP00000514856.1:p.Glu470LysfsTer?
ENST00000700203.1:n.1067del
ENST00000380152.8:c.8940del MANE Select	ENSP00000369497.3:p.Glu2981LysfsTer7
ENST00000544455.6:c.8940del	ENSP00000439902.1:p.Glu2981LysfsTer7
ENST00000614259.2:c.8948del	ENSP00000506251.1:n.8948del
ENST00000665585.1:c.1818del
ENST00000680887.1:c.8940del	ENSP00000505508.1:p.Glu2981LysfsTer7
ENST00000380152.7:c.8940del	ENSP00000369497.3:p.Glu2981LysfsTer7
ENST00000544455.5:c.8940del	ENSP00000439902.1:p.Glu2981LysfsTer7
NM_000059.3:c.8940del , LRG_293t1:c.8940del	NP_000050.2:p.Glu2981LysfsTer7
XM_011535203.1:c.8940del	XP_011533505.1:p.Glu2981LysfsTer7
XM_011535204.1:c.8844del	XP_011533506.1:p.Glu2949LysfsTer7
XM_011535205.1:c.8755-248del	XP_011533507.1:n.8755-248del
NM_000059.4:c.8940del MANE Select	NP_000050.3:p.Glu2981LysfsTer7