Canonical Allele Identifier: CA2082830323

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362527_32362529delinsCTG , CM000675.2:g.32362527_32362529delinsCTG	GRCh38
NC_000013.10:g.32936664_32936666delinsCTG , CM000675.1:g.32936664_32936666delinsCTG	GRCh37
NC_000013.9:g.31834664_31834666delinsCTG	NCBI36
NG_012772.3:g.52048_52050delinsCTG , LRG_293:g.52048_52050delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7810_7812delinsCTG	ENSP00000434898.2:p.Leu2604=
ENST00000528762.2:c.7810_7812delinsCTG	ENSP00000433168.2:p.Leu2604=
ENST00000530893.7:c.7441_7443delinsCTG	ENSP00000499438.2:p.Leu2481=
ENST00000665585.2:c.7810_7812delinsCTG	ENSP00000499570.2:p.Leu2604=
ENST00000666593.2:c.7810_7812delinsCTG	ENSP00000499256.2:p.Leu2604=
ENST00000700202.2:c.7810_7812delinsCTG	ENSP00000514856.2:p.Leu2604=
ENST00000700202.1:c.277_279delinsCTG	ENSP00000514856.1:p.Leu93=
ENST00000380152.8:c.7810_7812delinsCTG MANE Select	ENSP00000369497.3:p.Leu2604=
ENST00000544455.6:c.7810_7812delinsCTG	ENSP00000439902.1:p.Leu2604=
ENST00000614259.2:c.7818_7820delinsCTG	ENSP00000506251.1:p.Leu2606=
ENST00000665585.1:c.375_377delinsCTG
ENST00000680887.1:c.7810_7812delinsCTG	ENSP00000505508.1:p.Leu2604=
ENST00000380152.7:c.7810_7812delinsCTG	ENSP00000369497.3:p.Leu2604=
ENST00000544455.5:c.7810_7812delinsCTG	ENSP00000439902.1:p.Leu2604=
ENST00000614259.1:n.7818_7820delinsCTG
NM_000059.3:c.7810_7812delinsCTG , LRG_293t1:c.7810_7812delinsCTG	NP_000050.2:p.Leu2604=
XM_011535203.1:c.7810_7812delinsCTG	XP_011533505.1:p.Leu2604=
XM_011535204.1:c.7714_7716delinsCTG	XP_011533506.1:p.Leu2572=
XM_011535205.1:c.7810_7812delinsCTG	XP_011533507.1:p.Leu2604=
NM_000059.4:c.7810_7812delinsCTG MANE Select	NP_000050.3:p.Leu2604=