Canonical Allele Identifier: CA2082835641

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379361_32379362delinsGC , CM000675.2:g.32379361_32379362delinsGC	GRCh38
NC_000013.10:g.32953498_32953499delinsGC , CM000675.1:g.32953498_32953499delinsGC	GRCh37
NC_000013.9:g.31851498_31851499delinsGC	NCBI36
NG_012772.3:g.68882_68883delinsGC , LRG_293:g.68882_68883delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8799_8800delinsGC	ENSP00000434898.2:p.Arg2933=
ENST00000528762.2:c.*166_*167delinsGC	ENSP00000433168.2:n.*166_*167delinsGC
ENST00000530893.7:c.8430_8431delinsGC	ENSP00000499438.2:p.Arg2810=
ENST00000665585.2:c.*361_*362delinsGC	ENSP00000499570.2:n.*361_*362delinsGC
ENST00000666593.2:c.8799_8800delinsGC	ENSP00000499256.2:p.Arg2933=
ENST00000700202.2:c.8799_8800delinsGC	ENSP00000514856.2:p.Arg2933=
ENST00000700202.1:c.1266_1267delinsGC	ENSP00000514856.1:p.Arg422=
ENST00000700203.1:n.926_927delinsGC
ENST00000380152.8:c.8799_8800delinsGC MANE Select	ENSP00000369497.3:p.Arg2933=
ENST00000544455.6:c.8799_8800delinsGC	ENSP00000439902.1:p.Arg2933=
ENST00000614259.2:c.8807_8808delinsGC	ENSP00000506251.1:n.8807_8808delinsGC
ENST00000665585.1:c.1677_1678delinsGC
ENST00000680887.1:c.8799_8800delinsGC	ENSP00000505508.1:p.Arg2933=
ENST00000380152.7:c.8799_8800delinsGC	ENSP00000369497.3:p.Arg2933=
ENST00000528762.1:c.361_362delinsGC	ENSP00000433168.1:n.361_362delinsGC
ENST00000544455.5:c.8799_8800delinsGC	ENSP00000439902.1:p.Arg2933=
NM_000059.3:c.8799_8800delinsGC , LRG_293t1:c.8799_8800delinsGC	NP_000050.2:p.Arg2933=
XM_011535203.1:c.8799_8800delinsGC	XP_011533505.1:p.Arg2933=
XM_011535204.1:c.8703_8704delinsGC	XP_011533506.1:p.Arg2901=
XM_011535205.1:c.8755-389_8755-388delinsGC	XP_011533507.1:n.8755-389_8755-388delinsGC
NM_000059.4:c.8799_8800delinsGC MANE Select	NP_000050.3:p.Arg2933=