Canonical Allele Identifier: CA2499222341

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1049456
• ClinVar RCV Id: RCV001355588
• dbSNP Id: rs2137613348

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376769del , CM000675.2:g.32376769del	GRCh38
NC_000013.10:g.32950906del , CM000675.1:g.32950906del	GRCh37
NC_000013.9:g.31848906del	NCBI36
NG_012772.3:g.66290del , LRG_293:g.66290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8732del	ENSP00000434898.2:p.Ala2911GlufsTer16
ENST00000528762.2:c.*99del	ENSP00000433168.2:n.*99del
ENST00000530893.7:c.8363del	ENSP00000499438.2:p.Ala2788GlufsTer16
ENST00000665585.2:c.*294del	ENSP00000499570.2:n.*294del
ENST00000666593.2:c.8732del	ENSP00000499256.2:p.Ala2911GlufsTer16
ENST00000700202.2:c.8732del	ENSP00000514856.2:p.Ala2911GlufsTer16
ENST00000700202.1:c.1199del	ENSP00000514856.1:p.Ala400GlufsTer16
ENST00000700203.1:n.859del
ENST00000380152.8:c.8732del MANE Select	ENSP00000369497.3:p.Ala2911GlufsTer16
ENST00000544455.6:c.8732del	ENSP00000439902.1:p.Ala2911GlufsTer16
ENST00000614259.2:c.8740del	ENSP00000506251.1:n.8740del
ENST00000665585.1:c.1610del
ENST00000680887.1:c.8732del	ENSP00000505508.1:p.Ala2911GlufsTer16
ENST00000380152.7:c.8732del	ENSP00000369497.3:p.Ala2911GlufsTer16
ENST00000528762.1:c.294del	ENSP00000433168.1:n.294del
ENST00000544455.5:c.8732del	ENSP00000439902.1:p.Ala2911GlufsTer16
NM_000059.3:c.8732del , LRG_293t1:c.8732del	NP_000050.2:p.Ala2911GlufsTer16
XM_011535203.1:c.8732del	XP_011533505.1:p.Ala2911GlufsTer16
XM_011535204.1:c.8636del	XP_011533506.1:p.Ala2879GlufsTer16
XM_011535205.1:c.8732del	XP_011533507.1:p.Ala2911GlufsTer?
NM_000059.4:c.8732del MANE Select	NP_000050.3:p.Ala2911GlufsTer16