Canonical Allele Identifier: CA2082823897

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394838_32394839delinsCT , CM000675.2:g.32394838_32394839delinsCT	GRCh38
NC_000013.10:g.32968975_32968976delinsCT , CM000675.1:g.32968975_32968976delinsCT	GRCh37
NC_000013.9:g.31866975_31866976delinsCT	NCBI36
NG_012772.3:g.84359_84360delinsCT , LRG_293:g.84359_84360delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9406_9407delinsCT	ENSP00000434898.2:p.Leu3136=
ENST00000528762.2:c.*773_*774delinsCT	ENSP00000433168.2:n.*773_*774delinsCT
ENST00000530893.7:c.9037_9038delinsCT	ENSP00000499438.2:p.Leu3013=
ENST00000665585.2:c.*968_*969delinsCT	ENSP00000499570.2:n.*968_*969delinsCT
ENST00000666593.2:c.*251_*252delinsCT	ENSP00000499256.2:n.*251_*252delinsCT
ENST00000700202.2:c.9355_9356delinsCT	ENSP00000514856.2:p.Leu3119=
ENST00000700202.1:c.1822_1823delinsCT	ENSP00000514856.1:p.Leu608=
ENST00000700203.1:n.1533_1534delinsCT
ENST00000380152.8:c.9406_9407delinsCT MANE Select	ENSP00000369497.3:p.Leu3136=
ENST00000544455.6:c.9406_9407delinsCT	ENSP00000439902.1:p.Leu3136=
ENST00000614259.2:c.9414_9415delinsCT	ENSP00000506251.1:n.9414_9415delinsCT
ENST00000665585.1:c.2284_2285delinsCT
ENST00000666593.1:c.428_429delinsCT	ENSP00000499256.1:n.428_429delinsCT
ENST00000680887.1:c.9406_9407delinsCT	ENSP00000505508.1:p.Leu3136=
ENST00000380152.7:c.9406_9407delinsCT	ENSP00000369497.3:p.Leu3136=
ENST00000470094.1:c.363_364delinsCT
ENST00000544455.5:c.9406_9407delinsCT	ENSP00000439902.1:p.Leu3136=
NM_000059.3:c.9406_9407delinsCT , LRG_293t1:c.9406_9407delinsCT	NP_000050.2:p.Leu3136=
XM_011535203.1:c.9406_9407delinsCT	XP_011533505.1:p.Leu3136=
XM_011535204.1:c.9310_9311delinsCT	XP_011533506.1:p.Leu3104=
NM_000059.4:c.9406_9407delinsCT MANE Select	NP_000050.3:p.Leu3136=