Canonical Allele Identifier: CA915948631

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 639583
• ClinVar RCV Id: RCV000792407
• dbSNP Id: rs1593201811

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398285_32398288del , CM000675.2:g.32398285_32398288del	GRCh38
NC_000013.10:g.32972422_32972425del , CM000675.1:g.32972422_32972425del	GRCh37
NC_000013.9:g.31870422_31870425del	NCBI36
NG_012772.3:g.87806_87809del , LRG_293:g.87806_87809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*295_*298del	ENSP00000434898.2:n.*295_*298del
ENST00000528762.2:c.*1139_*1142del	ENSP00000433168.2:n.*1139_*1142del
ENST00000530893.7:c.9403_9406del	ENSP00000499438.2:p.Glu3135LeufsTer16
ENST00000665585.2:c.*1334_*1337del	ENSP00000499570.2:n.*1334_*1337del
ENST00000700202.2:c.9721_9724del	ENSP00000514856.2:p.Glu3241LeufsTer16
ENST00000700202.1:c.2188_2191del	ENSP00000514856.1:p.Glu730LeufsTer16
ENST00000700203.1:n.1899_1902del
ENST00000380152.8:c.9772_9775del MANE Select	ENSP00000369497.3:p.Glu3258LeufsTer16
ENST00000544455.6:c.9772_9775del	ENSP00000439902.1:p.Glu3258LeufsTer16
ENST00000614259.2:c.9780_9783del	ENSP00000506251.1:n.9780_9783del
ENST00000680887.1:c.9772_9775del	ENSP00000505508.1:p.Glu3258LeufsTer16
ENST00000380152.7:c.9772_9775del	ENSP00000369497.3:p.Glu3258LeufsTer16
ENST00000533776.1:n.360_363del
ENST00000544455.5:c.9772_9775del	ENSP00000439902.1:p.Glu3258LeufsTer16
NM_000059.3:c.9772_9775del , LRG_293t1:c.9772_9775del	NP_000050.2:p.Glu3258LeufsTer16
XM_011535203.1:c.9772_9775del	XP_011533505.1:p.Glu3258LeufsTer16
XM_011535204.1:c.9676_9679del	XP_011533506.1:p.Glu3226LeufsTer16
NM_000059.4:c.9772_9775del MANE Select	NP_000050.3:p.Glu3258LeufsTer16