Canonical Allele Identifier: CA915946895

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 822475
• ClinVar RCV Id: RCV001017859
• dbSNP Id: rs1566248946

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370544_32370557del , CM000675.2:g.32370544_32370557del	GRCh38
NC_000013.10:g.32944681_32944694del , CM000675.1:g.32944681_32944694del	GRCh37
NC_000013.9:g.31842681_31842694del	NCBI36
NG_012772.3:g.60065_60078del , LRG_293:g.60065_60078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8474_8487del	ENSP00000434898.2:p.Ala2825ValfsTer15
ENST00000528762.2:c.8474_8487del	ENSP00000433168.2:p.Ala2825ValfsTer15
ENST00000530893.7:c.8105_8118del	ENSP00000499438.2:p.Ala2702ValfsTer15
ENST00000665585.2:c.8474_8487del	ENSP00000499570.2:p.Ala2825ValfsTer15
ENST00000666593.2:c.8474_8487del	ENSP00000499256.2:p.Ala2825ValfsTer15
ENST00000700202.2:c.8474_8487del	ENSP00000514856.2:p.Ala2825ValfsTer15
ENST00000700202.1:c.941_954del	ENSP00000514856.1:p.Ala314ValfsTer15
ENST00000380152.8:c.8474_8487del MANE Select	ENSP00000369497.3:p.Ala2825ValfsTer15
ENST00000544455.6:c.8474_8487del	ENSP00000439902.1:p.Ala2825ValfsTer15
ENST00000614259.2:c.8482_8495del	ENSP00000506251.1:n.8482_8495del
ENST00000665585.1:c.1039_1052del
ENST00000680887.1:c.8474_8487del	ENSP00000505508.1:p.Ala2825ValfsTer15
ENST00000380152.7:c.8474_8487del	ENSP00000369497.3:p.Ala2825ValfsTer15
ENST00000544455.5:c.8474_8487del	ENSP00000439902.1:p.Ala2825ValfsTer15
NM_000059.3:c.8474_8487del , LRG_293t1:c.8474_8487del	NP_000050.2:p.Ala2825ValfsTer15
XM_011535203.1:c.8474_8487del	XP_011533505.1:p.Ala2825ValfsTer15
XM_011535204.1:c.8378_8391del	XP_011533506.1:p.Ala2793ValfsTer15
XM_011535205.1:c.8474_8487del	XP_011533507.1:p.Ala2825ValfsTer15
NM_000059.4:c.8474_8487del MANE Select	NP_000050.3:p.Ala2825ValfsTer15