Canonical Allele Identifier: CA2695199721

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2680240
• ClinVar RCV Id: RCV003474412

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380110dup , CM000675.2:g.32380110dup	GRCh38
NC_000013.10:g.32954247dup , CM000675.1:g.32954247dup	GRCh37
NC_000013.9:g.31852247dup	NCBI36
NG_012772.3:g.69631dup , LRG_293:g.69631dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9221dup	ENSP00000434898.2:p.Ile3075AsnfsTer?
ENST00000528762.2:c.*588dup	ENSP00000433168.2:n.*588dup
ENST00000530893.7:c.8852dup	ENSP00000499438.2:p.Ile2952AsnfsTer?
ENST00000665585.2:c.*783dup	ENSP00000499570.2:n.*783dup
ENST00000666593.2:c.9221dup	ENSP00000499256.2:p.Ile3075AsnfsTer?
ENST00000700202.2:c.9170dup	ENSP00000514856.2:p.Ile3058AsnfsTer?
ENST00000700202.1:c.1637dup	ENSP00000514856.1:p.Ile547AsnfsTer?
ENST00000700203.1:n.1348dup
ENST00000380152.8:c.9221dup MANE Select	ENSP00000369497.3:p.Ile3075AsnfsTer?
ENST00000544455.6:c.9221dup	ENSP00000439902.1:p.Ile3075AsnfsTer?
ENST00000614259.2:c.9229dup	ENSP00000506251.1:n.9229dup
ENST00000665585.1:c.2099dup
ENST00000666593.1:c.104dup	ENSP00000499256.1:p.Ile36AsnfsTer?
ENST00000680887.1:c.9221dup	ENSP00000505508.1:p.Ile3075AsnfsTer?
ENST00000380152.7:c.9221dup	ENSP00000369497.3:p.Ile3075AsnfsTer?
ENST00000470094.1:c.178dup
ENST00000544455.5:c.9221dup	ENSP00000439902.1:p.Ile3075AsnfsTer?
NM_000059.3:c.9221dup , LRG_293t1:c.9221dup	NP_000050.2:p.Ile3075AsnfsTer?
XM_011535203.1:c.9221dup	XP_011533505.1:p.Ile3075AsnfsTer?
XM_011535204.1:c.9125dup	XP_011533506.1:p.Ile3043AsnfsTer?
NM_000059.4:c.9221dup MANE Select	NP_000050.3:p.Ile3075AsnfsTer?