Canonical Allele Identifier: CA891843580

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 574772
• ClinVar RCV Id: RCV000696790 ; RCV001018486
• dbSNP Id: rs1566252738
• MyVariant Identifiers: chr13:g.32953599del (hg19) ; chr13:g.32379462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379462del , CM000675.2:g.32379462del	GRCh38
NC_000013.10:g.32953599del , CM000675.1:g.32953599del	GRCh37
NC_000013.9:g.31851599del	NCBI36
NG_012772.3:g.68983del , LRG_293:g.68983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8900del	ENSP00000434898.2:p.Thr2967LysfsTer9
ENST00000528762.2:c.*267del	ENSP00000433168.2:n.*267del
ENST00000530893.7:c.8531del	ENSP00000499438.2:p.Thr2844LysfsTer9
ENST00000665585.2:c.*462del	ENSP00000499570.2:n.*462del
ENST00000666593.2:c.8900del	ENSP00000499256.2:p.Thr2967LysfsTer9
ENST00000700202.2:c.8900del	ENSP00000514856.2:p.Thr2967LysfsTer9
ENST00000700202.1:c.1367del	ENSP00000514856.1:p.Thr456LysfsTer9
ENST00000700203.1:n.1027del
ENST00000380152.8:c.8900del MANE Select	ENSP00000369497.3:p.Thr2967LysfsTer9
ENST00000544455.6:c.8900del	ENSP00000439902.1:p.Thr2967LysfsTer9
ENST00000614259.2:c.8908del	ENSP00000506251.1:n.8908del
ENST00000665585.1:c.1778del
ENST00000680887.1:c.8900del	ENSP00000505508.1:p.Thr2967LysfsTer9
ENST00000380152.7:c.8900del	ENSP00000369497.3:p.Thr2967LysfsTer9
ENST00000528762.1:c.462del	ENSP00000433168.1:n.462del
ENST00000544455.5:c.8900del	ENSP00000439902.1:p.Thr2967LysfsTer9
NM_000059.3:c.8900del , LRG_293t1:c.8900del	NP_000050.2:p.Thr2967LysfsTer9
XM_011535203.1:c.8900del	XP_011533505.1:p.Thr2967LysfsTer9
XM_011535204.1:c.8804del	XP_011533506.1:p.Thr2935LysfsTer9
XM_011535205.1:c.8755-288del	XP_011533507.1:n.8755-288del
NM_000059.4:c.8900del MANE Select	NP_000050.3:p.Thr2967LysfsTer9