Canonical Allele Identifier: CA913190452

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 619825
• ClinVar RCV Id: RCV000759700
• dbSNP Id: rs1566261300

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398509_32398517delinsCCTTTGGG , CM000675.2:g.32398509_32398517delinsCCTTTGGG	GRCh38
NC_000013.10:g.32972646_32972654delinsCCTTTGGG , CM000675.1:g.32972646_32972654delinsCCTTTGGG	GRCh37
NC_000013.9:g.31870646_31870654delinsCCTTTGGG	NCBI36
NG_012772.3:g.88030_88038delinsCCTTTGGG , LRG_293:g.88030_88038delinsCCTTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*519_*527delinsCCTTTGGG	ENSP00000434898.2:n.*519_*527delinsCCTTTGGG
ENST00000528762.2:c.*1363_*1371delinsCCTTTGGG	ENSP00000433168.2:n.*1363_*1371delinsCCTTTGGG
ENST00000530893.7:c.9627_9635delinsCCTTTGGG	ENSP00000499438.2:p.Leu3211TrpfsTer6
ENST00000665585.2:c.*1558_*1566delinsCCTTTGGG	ENSP00000499570.2:n.*1558_*1566delinsCCTTTGGG
ENST00000700202.2:c.9945_9953delinsCCTTTGGG	ENSP00000514856.2:p.Leu3317TrpfsTer6
ENST00000700202.1:c.2412_2420delinsCCTTTGGG	ENSP00000514856.1:p.Leu806TrpfsTer6
ENST00000700203.1:n.2123_2131delinsCCTTTGGG
ENST00000380152.8:c.9996_10004delinsCCTTTGGG MANE Select	ENSP00000369497.3:p.Leu3334TrpfsTer6
ENST00000544455.6:c.9996_10004delinsCCTTTGGG	ENSP00000439902.1:p.Leu3334TrpfsTer6
ENST00000614259.2:c.10004_10012delinsCCTTTGGG	ENSP00000506251.1:n.10004_10012delinsCCTTTGGG
ENST00000680887.1:c.9996_10004delinsCCTTTGGG	ENSP00000505508.1:p.Leu3334TrpfsTer6
ENST00000380152.7:c.9996_10004delinsCCTTTGGG	ENSP00000369497.3:p.Leu3334TrpfsTer6
ENST00000544455.5:c.9996_10004delinsCCTTTGGG	ENSP00000439902.1:p.Leu3334TrpfsTer6
NM_000059.3:c.9996_10004delinsCCTTTGGG , LRG_293t1:c.9996_10004delinsCCTTTGGG	NP_000050.2:p.Leu3334TrpfsTer6
XM_011535203.1:c.9996_10004delinsCCTTTGGG	XP_011533505.1:p.Leu3334TrpfsTer6
XM_011535204.1:c.9900_9908delinsCCTTTGGG	XP_011533506.1:p.Leu3302TrpfsTer6
NM_000059.4:c.9996_10004delinsCCTTTGGG MANE Select	NP_000050.3:p.Leu3334TrpfsTer6