Canonical Allele Identifier: CA16619794

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 421372
• ClinVar RCV Id: RCV000480880 ; RCV000661481 ; RCV001061103
• dbSNP Id: rs1555289805
• MyVariant Identifiers: chr13:g.32971166dupA (hg19) ; chr13:g.32397029dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32397029dup , CM000675.2:g.32397029dup	GRCh38
NC_000013.10:g.32971166dup , CM000675.1:g.32971166dup	GRCh37
NC_000013.9:g.31869166dup	NCBI36
NG_012772.3:g.86550dup , LRG_293:g.86550dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*156dup	ENSP00000434898.2:n.*156dup
ENST00000528762.2:c.*1000dup	ENSP00000433168.2:n.*1000dup
ENST00000530893.7:c.9264dup	ENSP00000499438.2:p.Gly3089ArgfsTer10
ENST00000665585.2:c.*1195dup	ENSP00000499570.2:n.*1195dup
ENST00000700202.2:c.9582dup	ENSP00000514856.2:p.Gly3195ArgfsTer10
ENST00000700202.1:c.2049dup	ENSP00000514856.1:p.Gly684ArgfsTer10
ENST00000700203.1:n.1760dup
ENST00000380152.8:c.9633dup MANE Select	ENSP00000369497.3:p.Gly3212ArgfsTer10
ENST00000544455.6:c.9633dup	ENSP00000439902.1:p.Gly3212ArgfsTer10
ENST00000614259.2:c.9641dup	ENSP00000506251.1:n.9641dup
ENST00000665585.1:c.2511dup
ENST00000680887.1:c.9633dup	ENSP00000505508.1:p.Gly3212ArgfsTer10
ENST00000380152.7:c.9633dup	ENSP00000369497.3:p.Gly3212ArgfsTer10
ENST00000470094.1:c.716dup
ENST00000533776.1:n.221dup
ENST00000544455.5:c.9633dup	ENSP00000439902.1:p.Gly3212ArgfsTer10
NM_000059.3:c.9633dup , LRG_293t1:c.9633dup	NP_000050.2:p.Gly3212ArgfsTer10
XM_011535203.1:c.9633dup	XP_011533505.1:p.Gly3212ArgfsTer10
XM_011535204.1:c.9537dup	XP_011533506.1:p.Gly3180ArgfsTer10
NM_000059.4:c.9633dup MANE Select	NP_000050.3:p.Gly3212ArgfsTer10