Canonical Allele Identifier: CA2082820064

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338073_32338077delinsCTGTT , CM000675.2:g.32338073_32338077delinsCTGTT	GRCh38
NC_000013.10:g.32912210_32912214delinsCTGTT , CM000675.1:g.32912210_32912214delinsCTGTT	GRCh37
NC_000013.9:g.31810210_31810214delinsCTGTT	NCBI36
NG_012772.3:g.27594_27598delinsCTGTT , LRG_293:g.27594_27598delinsCTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3718_3722delinsCTGTT	ENSP00000434898.2:p.Leu1240=
ENST00000528762.2:c.3718_3722delinsCTGTT	ENSP00000433168.2:p.Leu1240=
ENST00000530893.7:c.3349_3353delinsCTGTT	ENSP00000499438.2:p.Leu1117=
ENST00000665585.2:c.3718_3722delinsCTGTT	ENSP00000499570.2:p.Leu1240=
ENST00000666593.2:c.3718_3722delinsCTGTT	ENSP00000499256.2:p.Leu1240=
ENST00000700202.2:c.3718_3722delinsCTGTT	ENSP00000514856.2:p.Leu1240=
ENST00000380152.8:c.3718_3722delinsCTGTT MANE Select	ENSP00000369497.3:p.Leu1240=
ENST00000544455.6:c.3718_3722delinsCTGTT	ENSP00000439902.1:p.Leu1240=
ENST00000614259.2:c.3718_3722delinsCTGTT	ENSP00000506251.1:p.Leu1240=
ENST00000680887.1:c.3718_3722delinsCTGTT	ENSP00000505508.1:p.Leu1240=
ENST00000380152.7:c.3718_3722delinsCTGTT	ENSP00000369497.3:p.Leu1240=
ENST00000544455.5:c.3718_3722delinsCTGTT	ENSP00000439902.1:p.Leu1240=
ENST00000614259.1:n.3718_3722delinsCTGTT
NM_000059.3:c.3718_3722delinsCTGTT , LRG_293t1:c.3718_3722delinsCTGTT	NP_000050.2:p.Leu1240=
XM_011535203.1:c.3718_3722delinsCTGTT	XP_011533505.1:p.Leu1240=
XM_011535204.1:c.3718_3722delinsCTGTT	XP_011533506.1:p.Leu1240=
XM_011535205.1:c.3718_3722delinsCTGTT	XP_011533507.1:p.Leu1240=
NM_000059.4:c.3718_3722delinsCTGTT MANE Select	NP_000050.3:p.Leu1240=