Canonical Allele Identifier: CA915948632

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 823471
• ClinVar RCV Id: RCV001019735
• dbSNP Id: rs1593201819

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398292_32398293del , CM000675.2:g.32398292_32398293del	GRCh38
NC_000013.10:g.32972429_32972430del , CM000675.1:g.32972429_32972430del	GRCh37
NC_000013.9:g.31870429_31870430del	NCBI36
NG_012772.3:g.87813_87814del , LRG_293:g.87813_87814del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*302_*303del	ENSP00000434898.2:n.*302_*303del
ENST00000528762.2:c.*1146_*1147del	ENSP00000433168.2:n.*1146_*1147del
ENST00000530893.7:c.9410_9411del	ENSP00000499438.2:p.Asp3137GlyfsTer16
ENST00000665585.2:c.*1341_*1342del	ENSP00000499570.2:n.*1341_*1342del
ENST00000700202.2:c.9728_9729del	ENSP00000514856.2:p.Asp3243GlyfsTer16
ENST00000700202.1:c.2195_2196del	ENSP00000514856.1:p.Asp732GlyfsTer16
ENST00000700203.1:n.1906_1907del
ENST00000380152.8:c.9779_9780del MANE Select	ENSP00000369497.3:p.Asp3260GlyfsTer16
ENST00000544455.6:c.9779_9780del	ENSP00000439902.1:p.Asp3260GlyfsTer16
ENST00000614259.2:c.9787_9788del	ENSP00000506251.1:n.9787_9788del
ENST00000680887.1:c.9779_9780del	ENSP00000505508.1:p.Asp3260GlyfsTer16
ENST00000380152.7:c.9779_9780del	ENSP00000369497.3:p.Asp3260GlyfsTer16
ENST00000533776.1:n.367_368del
ENST00000544455.5:c.9779_9780del	ENSP00000439902.1:p.Asp3260GlyfsTer16
NM_000059.3:c.9779_9780del , LRG_293t1:c.9779_9780del	NP_000050.2:p.Asp3260GlyfsTer16
XM_011535203.1:c.9779_9780del	XP_011533505.1:p.Asp3260GlyfsTer16
XM_011535204.1:c.9683_9684del	XP_011533506.1:p.Asp3228GlyfsTer16
NM_000059.4:c.9779_9780del MANE Select	NP_000050.3:p.Asp3260GlyfsTer16