Canonical Allele Identifier: CA3261216018

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394886_32394888delinsAAA , CM000675.2:g.32394886_32394888delinsAAA	GRCh38
NC_000013.10:g.32969023_32969025delinsAAA , CM000675.1:g.32969023_32969025delinsAAA	GRCh37
NC_000013.9:g.31867023_31867025delinsAAA	NCBI36
NG_012772.3:g.84407_84409delinsAAA , LRG_293:g.84407_84409delinsAAA

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9454_9456delinsAAA MANE Select	NP_000050.3:p.Glu3152Lys
ENST00000380152.8:c.9454_9456delinsAAA MANE Select	ENSP00000369497.3:p.Glu3152Lys
NM_000059.3:c.9454_9456delinsAAA , LRG_293t1:c.9454_9456delinsAAA	NP_000050.2:p.Glu3152Lys
ENST00000380152.7:c.9454_9456delinsAAA	ENSP00000369497.3:p.Glu3152Lys
ENST00000470094.1:c.411_413delinsAAA
ENST00000470094.2:c.9454_9456delinsAAA	ENSP00000434898.2:p.Glu3152Lys
ENST00000528762.2:c.*821_*823delinsAAA	ENSP00000433168.2:n.*821_*823delinsAAA
ENST00000530893.7:c.9085_9087delinsAAA	ENSP00000499438.2:p.Glu3029Lys
ENST00000544455.5:c.9454_9456delinsAAA	ENSP00000439902.1:p.Glu3152Lys
ENST00000544455.6:c.9454_9456delinsAAA	ENSP00000439902.1:p.Glu3152Lys
ENST00000614259.2:c.9462_9464delinsAAA	ENSP00000506251.1:n.9462_9464delinsAAA
ENST00000665585.1:c.2332_2334delinsAAA
ENST00000665585.2:c.*1016_*1018delinsAAA	ENSP00000499570.2:n.*1016_*1018delinsAAA
ENST00000666593.1:c.476_478delinsAAA	ENSP00000499256.1:n.476_478delinsAAA
ENST00000666593.2:c.*299_*301delinsAAA	ENSP00000499256.2:n.*299_*301delinsAAA
ENST00000680887.1:c.9454_9456delinsAAA	ENSP00000505508.1:p.Glu3152Lys
ENST00000700202.1:c.1870_1872delinsAAA	ENSP00000514856.1:p.Glu624Lys
ENST00000700202.2:c.9403_9405delinsAAA	ENSP00000514856.2:p.Glu3135Lys
ENST00000700203.1:n.1581_1583delinsAAA
XM_011535203.1:c.9454_9456delinsAAA	XP_011533505.1:p.Glu3152Lys
XM_011535204.1:c.9358_9360delinsAAA	XP_011533506.1:p.Glu3120Lys