Canonical Allele Identifier: CA1139663206

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 948842
• ClinVar RCV Id: RCV003346383
• dbSNP Id: rs2073051840

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398368del , CM000675.2:g.32398368del	GRCh38
NC_000013.10:g.32972505del , CM000675.1:g.32972505del	GRCh37
NC_000013.9:g.31870505del	NCBI36
NG_012772.3:g.87889del , LRG_293:g.87889del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*378del	ENSP00000434898.2:n.*378del
ENST00000528762.2:c.*1222del	ENSP00000433168.2:n.*1222del
ENST00000530893.7:c.9486del	ENSP00000499438.2:p.Ile3163PhefsTer27
ENST00000665585.2:c.*1417del	ENSP00000499570.2:n.*1417del
ENST00000700202.2:c.9804del	ENSP00000514856.2:p.Ile3269PhefsTer27
ENST00000700202.1:c.2271del	ENSP00000514856.1:p.Ile758PhefsTer27
ENST00000700203.1:n.1982del
ENST00000380152.8:c.9855del MANE Select	ENSP00000369497.3:p.Ile3286PhefsTer27
ENST00000544455.6:c.9855del	ENSP00000439902.1:p.Ile3286PhefsTer27
ENST00000614259.2:c.9863del	ENSP00000506251.1:n.9863del
ENST00000680887.1:c.9855del	ENSP00000505508.1:p.Ile3286PhefsTer27
ENST00000380152.7:c.9855del	ENSP00000369497.3:p.Ile3286PhefsTer27
ENST00000533776.1:n.443del
ENST00000544455.5:c.9855del	ENSP00000439902.1:p.Ile3286PhefsTer27
NM_000059.3:c.9855del , LRG_293t1:c.9855del	NP_000050.2:p.Ile3286PhefsTer27
XM_011535203.1:c.9855del	XP_011533505.1:p.Ile3286PhefsTer27
XM_011535204.1:c.9759del	XP_011533506.1:p.Ile3254PhefsTer27
NM_000059.4:c.9855del MANE Select	NP_000050.3:p.Ile3286PhefsTer27