Canonical Allele Identifier: CA3261215959

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371079_32371081delinsCAA , CM000675.2:g.32371079_32371081delinsCAA	GRCh38
NC_000013.10:g.32945216_32945218delinsCAA , CM000675.1:g.32945216_32945218delinsCAA	GRCh37
NC_000013.9:g.31843216_31843218delinsCAA	NCBI36
NG_012772.3:g.60600_60602delinsCAA , LRG_293:g.60600_60602delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.8611_8613delinsCAA MANE Select	NP_000050.3:p.Glu2871Gln
ENST00000380152.8:c.8611_8613delinsCAA MANE Select	ENSP00000369497.3:p.Glu2871Gln
NM_000059.3:c.8611_8613delinsCAA , LRG_293t1:c.8611_8613delinsCAA	NP_000050.2:p.Glu2871Gln
ENST00000380152.7:c.8611_8613delinsCAA	ENSP00000369497.3:p.Glu2871Gln
ENST00000470094.2:c.8611_8613delinsCAA	ENSP00000434898.2:p.Glu2871Gln
ENST00000528762.1:c.109_111delinsCAA	ENSP00000433168.1:p.Glu37Gln
ENST00000528762.2:c.8611_8613delinsCAA	ENSP00000433168.2:p.Glu2871Gln
ENST00000530893.7:c.8242_8244delinsCAA	ENSP00000499438.2:p.Glu2748Gln
ENST00000544455.5:c.8611_8613delinsCAA	ENSP00000439902.1:p.Glu2871Gln
ENST00000544455.6:c.8611_8613delinsCAA	ENSP00000439902.1:p.Glu2871Gln
ENST00000614259.2:c.8619_8621delinsCAA	ENSP00000506251.1:n.8619_8621delinsCAA
ENST00000665585.1:c.1176_1178delinsCAA
ENST00000665585.2:c.8611_8613delinsCAA	ENSP00000499570.2:p.Glu2871Gln
ENST00000666593.2:c.8611_8613delinsCAA	ENSP00000499256.2:p.Glu2871Gln
ENST00000680887.1:c.8611_8613delinsCAA	ENSP00000505508.1:p.Glu2871Gln
ENST00000700202.1:c.1078_1080delinsCAA	ENSP00000514856.1:p.Glu360Gln
ENST00000700202.2:c.8611_8613delinsCAA	ENSP00000514856.2:p.Glu2871Gln
XM_011535203.1:c.8611_8613delinsCAA	XP_011533505.1:p.Glu2871Gln
XM_011535204.1:c.8515_8517delinsCAA	XP_011533506.1:p.Glu2839Gln
XM_011535205.1:c.8611_8613delinsCAA	XP_011533507.1:p.Glu2871Gln