Canonical Allele Identifier: CA2697551788
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2707212
ClinVar RCV Id: RCV003530555

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32357869del , CM000675.2:g.32357869del GRCh38
NC_000013.10:g.32932006del , CM000675.1:g.32932006del GRCh37
NC_000013.9:g.31830006del NCBI36
NG_012772.3:g.47390del , LRG_293:g.47390del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7745del ENSP00000434898.2:p.Ala2582ValfsTer?
ENST00000528762.2:c.7745del ENSP00000433168.2:p.Ala2582ValfsTer?
ENST00000530893.7:c.7376del ENSP00000499438.2:p.Ala2459ValfsTer?
ENST00000665585.2:c.7745del ENSP00000499570.2:p.Ala2582ValfsTer?
ENST00000666593.2:c.7745del ENSP00000499256.2:p.Ala2582ValfsTer?
ENST00000700202.2:c.7745del ENSP00000514856.2:p.Ala2582ValfsTer?
ENST00000700202.1:c.212del ENSP00000514856.1:p.Ala71ValfsTer?
ENST00000380152.8:c.7745del MANE Select ENSP00000369497.3:p.Ala2582ValfsTer?
ENST00000544455.6:c.7745del ENSP00000439902.1:p.Ala2582ValfsTer?
ENST00000614259.2:c.7745del ENSP00000506251.1:p.Ala2582ValfsTer27
ENST00000665585.1:c.310del
ENST00000680887.1:c.7745del ENSP00000505508.1:p.Ala2582ValfsTer?
ENST00000380152.7:c.7745del ENSP00000369497.3:p.Ala2582ValfsTer?
ENST00000544455.5:c.7745del ENSP00000439902.1:p.Ala2582ValfsTer?
ENST00000614259.1:n.7745del
NM_000059.3:c.7745del , LRG_293t1:c.7745del NP_000050.2:p.Ala2582ValfsTer?
XM_011535203.1:c.7745del XP_011533505.1:p.Ala2582ValfsTer?
XM_011535204.1:c.7649del XP_011533506.1:p.Ala2550ValfsTer?
XM_011535205.1:c.7745del XP_011533507.1:p.Ala2582ValfsTer?
NM_000059.4:c.7745del MANE Select NP_000050.3:p.Ala2582ValfsTer?