Canonical Allele Identifier: CA2082830169

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396936_32396950delinsTATGCATATACTGCA , CM000675.2:g.32396936_32396950delinsTATGCATATACTGCA	GRCh38
NC_000013.10:g.32971073_32971087delinsTATGCATATACTGCA , CM000675.1:g.32971073_32971087delinsTATGCATATACTGCA	GRCh37
NC_000013.9:g.31869073_31869087delinsTATGCATATACTGCA	NCBI36
NG_012772.3:g.86457_86471delinsTATGCATATACTGCA , LRG_293:g.86457_86471delinsTATGCATATACTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*63_*77delinsTATGCATATACTGCA	ENSP00000434898.2:n.*63_*77delinsTATGCATATACTGCA
ENST00000528762.2:c.*907_*921delinsTATGCATATACTGCA	ENSP00000433168.2:n.*907_*921delinsTATGCATATACTGCA
ENST00000530893.7:c.9171_9185delinsTATGCATATACTGCA	ENSP00000499438.2:p.Leu3057=
ENST00000665585.2:c.*1102_*1116delinsTATGCATATACTGCA	ENSP00000499570.2:n.*1102_*1116delinsTATGCATATACTGCA
ENST00000700202.2:c.9489_9503delinsTATGCATATACTGCA	ENSP00000514856.2:p.Leu3163=
ENST00000700202.1:c.1956_1970delinsTATGCATATACTGCA	ENSP00000514856.1:p.Leu652=
ENST00000700203.1:n.1667_1681delinsTATGCATATACTGCA
ENST00000380152.8:c.9540_9554delinsTATGCATATACTGCA MANE Select	ENSP00000369497.3:p.Leu3180=
ENST00000544455.6:c.9540_9554delinsTATGCATATACTGCA	ENSP00000439902.1:p.Leu3180=
ENST00000614259.2:c.9548_9562delinsTATGCATATACTGCA	ENSP00000506251.1:n.9548_9562delinsTATGCATATACTGCA
ENST00000665585.1:c.2418_2432delinsTATGCATATACTGCA
ENST00000680887.1:c.9540_9554delinsTATGCATATACTGCA	ENSP00000505508.1:p.Leu3180=
ENST00000380152.7:c.9540_9554delinsTATGCATATACTGCA	ENSP00000369497.3:p.Leu3180=
ENST00000470094.1:c.623_637delinsTATGCATATACTGCA
ENST00000533776.1:n.128_142delinsTATGCATATACTGCA
ENST00000544455.5:c.9540_9554delinsTATGCATATACTGCA	ENSP00000439902.1:p.Leu3180=
NM_000059.3:c.9540_9554delinsTATGCATATACTGCA , LRG_293t1:c.9540_9554delinsTATGCATATACTGCA	NP_000050.2:p.Leu3180=
XM_011535203.1:c.9540_9554delinsTATGCATATACTGCA	XP_011533505.1:p.Leu3180=
XM_011535204.1:c.9444_9458delinsTATGCATATACTGCA	XP_011533506.1:p.Leu3148=
NM_000059.4:c.9540_9554delinsTATGCATATACTGCA MANE Select	NP_000050.3:p.Leu3180=