Canonical Allele Identifier: CA014764

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51260
• ClinVar RCV Id: RCV000113027 ; RCV000496907 ; RCV000770716 ; RCV000657223 ; RCV001014946
• dbSNP Id: rs80359326
• MyVariant Identifiers: chr13:g.32910746_32910749del (hg19) ; chr13:g.32336609_32336612del (hg38)
• PubMed: PMID:12070551

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336609_32336612del , CM000675.2:g.32336609_32336612del	GRCh38
NC_000013.10:g.32910746_32910749del , CM000675.1:g.32910746_32910749del	GRCh37
NC_000013.9:g.31808746_31808749del	NCBI36
NG_012772.3:g.26130_26133del , LRG_293:g.26130_26133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2254_2257del	ENSP00000434898.2:p.Asp752PhefsTer19
ENST00000528762.2:c.2254_2257del	ENSP00000433168.2:p.Asp752PhefsTer19
ENST00000530893.7:c.1885_1888del	ENSP00000499438.2:p.Asp629PhefsTer19
ENST00000665585.2:c.2254_2257del	ENSP00000499570.2:p.Asp752PhefsTer19
ENST00000666593.2:c.2254_2257del	ENSP00000499256.2:p.Asp752PhefsTer19
ENST00000700202.2:c.2254_2257del	ENSP00000514856.2:p.Asp752PhefsTer19
ENST00000380152.8:c.2254_2257del MANE Select	ENSP00000369497.3:p.Asp752PhefsTer19
ENST00000544455.6:c.2254_2257del	ENSP00000439902.1:p.Asp752PhefsTer19
ENST00000614259.2:c.2254_2257del	ENSP00000506251.1:p.Asp752PhefsTer19
ENST00000680887.1:c.2254_2257del	ENSP00000505508.1:p.Asp752PhefsTer19
ENST00000380152.7:c.2254_2257del	ENSP00000369497.3:p.Asp752PhefsTer19
ENST00000544455.5:c.2254_2257del	ENSP00000439902.1:p.Asp752PhefsTer19
ENST00000614259.1:n.2254_2257del
NM_000059.3:c.2254_2257del , LRG_293t1:c.2254_2257del	NP_000050.2:p.Asp752PhefsTer19
XM_011535203.1:c.2254_2257del	XP_011533505.1:p.Asp752PhefsTer19
XM_011535204.1:c.2254_2257del	XP_011533506.1:p.Asp752PhefsTer19
XM_011535205.1:c.2254_2257del	XP_011533507.1:p.Asp752PhefsTer19
NM_000059.4:c.2254_2257del MANE Select	NP_000050.3:p.Asp752PhefsTer19