Canonical Allele Identifier: CA10585935

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 252448
• ClinVar RCV Id: RCV000238889 ; RCV000661724
• dbSNP Id: rs879255332
• MyVariant Identifiers: chr13:g.32936768del (hg19) ; chr13:g.32362631del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362631del , CM000675.2:g.32362631del	GRCh38
NC_000013.10:g.32936768del , CM000675.1:g.32936768del	GRCh37
NC_000013.9:g.31834768del	NCBI36
NG_012772.3:g.52152del , LRG_293:g.52152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7914del	ENSP00000434898.2:p.Pro2639LeufsTer9
ENST00000528762.2:c.7914del	ENSP00000433168.2:p.Pro2639LeufsTer9
ENST00000530893.7:c.7545del	ENSP00000499438.2:p.Pro2516LeufsTer9
ENST00000665585.2:c.7914del	ENSP00000499570.2:p.Pro2639LeufsTer9
ENST00000666593.2:c.7914del	ENSP00000499256.2:p.Pro2639LeufsTer9
ENST00000700202.2:c.7914del	ENSP00000514856.2:p.Pro2639LeufsTer9
ENST00000700202.1:c.381del	ENSP00000514856.1:p.Pro128LeufsTer9
ENST00000380152.8:c.7914del MANE Select	ENSP00000369497.3:p.Pro2639LeufsTer9
ENST00000544455.6:c.7914del	ENSP00000439902.1:p.Pro2639LeufsTer9
ENST00000614259.2:c.7922del	ENSP00000506251.1:p.Phe2641SerfsTer2
ENST00000665585.1:c.479del
ENST00000680887.1:c.7914del	ENSP00000505508.1:p.Pro2639LeufsTer9
ENST00000380152.7:c.7914del	ENSP00000369497.3:p.Pro2639LeufsTer9
ENST00000544455.5:c.7914del	ENSP00000439902.1:p.Pro2639LeufsTer9
ENST00000614259.1:n.7922del
NM_000059.3:c.7914del , LRG_293t1:c.7914del	NP_000050.2:p.Pro2639LeufsTer9
XM_011535203.1:c.7914del	XP_011533505.1:p.Pro2639LeufsTer9
XM_011535204.1:c.7818del	XP_011533506.1:p.Pro2607LeufsTer9
XM_011535205.1:c.7914del	XP_011533507.1:p.Pro2639LeufsTer9
NM_000059.4:c.7914del MANE Select	NP_000050.3:p.Pro2639LeufsTer9