Canonical Allele Identifier: CA2580087095

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1760601
• ClinVar RCV Id: RCV002409820

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32331015_32331016delinsTC , CM000675.2:g.32331015_32331016delinsTC	GRCh38
NC_000013.10:g.32905152_32905153delinsTC , CM000675.1:g.32905152_32905153delinsTC	GRCh37
NC_000013.9:g.31803152_31803153delinsTC	NCBI36
NG_012772.3:g.20536_20537delinsTC , LRG_293:g.20536_20537delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.778_779delinsTC	ENSP00000434898.2:p.Glu260Ser
ENST00000528762.2:c.778_779delinsTC	ENSP00000433168.2:p.Glu260Ser
ENST00000530893.7:c.409_410delinsTC	ENSP00000499438.2:p.Glu137Ser
ENST00000665585.2:c.778_779delinsTC	ENSP00000499570.2:p.Glu260Ser
ENST00000666593.2:c.778_779delinsTC	ENSP00000499256.2:p.Glu260Ser
ENST00000700202.2:c.778_779delinsTC	ENSP00000514856.2:p.Glu260Ser
ENST00000700201.1:c.*557_*558delinsTC	ENSP00000514855.1:n.*557_*558delinsTC
ENST00000380152.8:c.778_779delinsTC MANE Select	ENSP00000369497.3:p.Glu260Ser
ENST00000544455.6:c.778_779delinsTC	ENSP00000439902.1:p.Glu260Ser
ENST00000614259.2:c.778_779delinsTC	ENSP00000506251.1:p.Glu260Ser
ENST00000680887.1:c.778_779delinsTC	ENSP00000505508.1:p.Glu260Ser
ENST00000380152.7:c.778_779delinsTC	ENSP00000369497.3:p.Glu260Ser
ENST00000530893.6:n.976_977delinsTC
ENST00000544455.5:c.778_779delinsTC	ENSP00000439902.1:p.Glu260Ser
ENST00000614259.1:n.778_779delinsTC
NM_000059.3:c.778_779delinsTC , LRG_293t1:c.778_779delinsTC	NP_000050.2:p.Glu260Ser
XM_011535203.1:c.778_779delinsTC	XP_011533505.1:p.Glu260Ser
XM_011535204.1:c.778_779delinsTC	XP_011533506.1:p.Glu260Ser
XM_011535205.1:c.778_779delinsTC	XP_011533507.1:p.Glu260Ser
NM_000059.4:c.778_779delinsTC MANE Select	NP_000050.3:p.Glu260Ser