Canonical Allele Identifier: CA1139663119

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 919086
• ClinVar RCV Id: RCV001177012 ; RCV001218728
• dbSNP Id: rs2072462600

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337027dup , CM000675.2:g.32337027dup	GRCh38
NC_000013.10:g.32911164dup , CM000675.1:g.32911164dup	GRCh37
NC_000013.9:g.31809164dup	NCBI36
NG_012772.3:g.26548dup , LRG_293:g.26548dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2672dup	ENSP00000434898.2:p.Phe892LeufsTer5
ENST00000528762.2:c.2672dup	ENSP00000433168.2:p.Phe892LeufsTer5
ENST00000530893.7:c.2303dup	ENSP00000499438.2:p.Phe769LeufsTer5
ENST00000665585.2:c.2672dup	ENSP00000499570.2:p.Phe892LeufsTer5
ENST00000666593.2:c.2672dup	ENSP00000499256.2:p.Phe892LeufsTer5
ENST00000700202.2:c.2672dup	ENSP00000514856.2:p.Phe892LeufsTer5
ENST00000380152.8:c.2672dup MANE Select	ENSP00000369497.3:p.Phe892LeufsTer5
ENST00000544455.6:c.2672dup	ENSP00000439902.1:p.Phe892LeufsTer5
ENST00000614259.2:c.2672dup	ENSP00000506251.1:p.Phe892LeufsTer5
ENST00000680887.1:c.2672dup	ENSP00000505508.1:p.Phe892LeufsTer5
ENST00000380152.7:c.2672dup	ENSP00000369497.3:p.Phe892LeufsTer5
ENST00000544455.5:c.2672dup	ENSP00000439902.1:p.Phe892LeufsTer5
ENST00000614259.1:n.2672dup
NM_000059.3:c.2672dup , LRG_293t1:c.2672dup	NP_000050.2:p.Phe892LeufsTer5
XM_011535203.1:c.2672dup	XP_011533505.1:p.Phe892LeufsTer5
XM_011535204.1:c.2672dup	XP_011533506.1:p.Phe892LeufsTer5
XM_011535205.1:c.2672dup	XP_011533507.1:p.Phe892LeufsTer5
NM_000059.4:c.2672dup MANE Select	NP_000050.3:p.Phe892LeufsTer5