Canonical Allele Identifier: CA2573149524

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1451628
• ClinVar RCV Id: RCV001993299
• dbSNP Id: rs2137664254

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398349dup , CM000675.2:g.32398349dup	GRCh38
NC_000013.10:g.32972486dup , CM000675.1:g.32972486dup	GRCh37
NC_000013.9:g.31870486dup	NCBI36
NG_012772.3:g.87870dup , LRG_293:g.87870dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*359dup	ENSP00000434898.2:n.*359dup
ENST00000528762.2:c.*1203dup	ENSP00000433168.2:n.*1203dup
ENST00000530893.7:c.9467dup	ENSP00000499438.2:p.Leu3156PhefsTer6
ENST00000665585.2:c.*1398dup	ENSP00000499570.2:n.*1398dup
ENST00000700202.2:c.9785dup	ENSP00000514856.2:p.Leu3262PhefsTer6
ENST00000700202.1:c.2252dup	ENSP00000514856.1:p.Leu751PhefsTer6
ENST00000700203.1:n.1963dup
ENST00000380152.8:c.9836dup MANE Select	ENSP00000369497.3:p.Leu3279PhefsTer6
ENST00000544455.6:c.9836dup	ENSP00000439902.1:p.Leu3279PhefsTer6
ENST00000614259.2:c.9844dup	ENSP00000506251.1:n.9844dup
ENST00000680887.1:c.9836dup	ENSP00000505508.1:p.Leu3279PhefsTer6
ENST00000380152.7:c.9836dup	ENSP00000369497.3:p.Leu3279PhefsTer6
ENST00000533776.1:n.424dup
ENST00000544455.5:c.9836dup	ENSP00000439902.1:p.Leu3279PhefsTer6
NM_000059.3:c.9836dup , LRG_293t1:c.9836dup	NP_000050.2:p.Leu3279PhefsTer6
XM_011535203.1:c.9836dup	XP_011533505.1:p.Leu3279PhefsTer6
XM_011535204.1:c.9740dup	XP_011533506.1:p.Leu3247PhefsTer6
NM_000059.4:c.9836dup MANE Select	NP_000050.3:p.Leu3279PhefsTer6