Canonical Allele Identifier: CA658683852
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 491326
dbSNP Id: rs1555286294

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32356571del , CM000675.2:g.32356571del GRCh38
NC_000013.10:g.32930708del , CM000675.1:g.32930708del GRCh37
NC_000013.9:g.31828708del NCBI36
NG_012772.3:g.46092del , LRG_293:g.46092del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7579del ENSP00000434898.2:p.Val2527Ter
ENST00000528762.2:c.7579del ENSP00000433168.2:p.Val2527Ter
ENST00000530893.7:c.7210del ENSP00000499438.2:p.Val2404Ter
ENST00000665585.2:c.7579del ENSP00000499570.2:p.Val2527Ter
ENST00000666593.2:c.7579del ENSP00000499256.2:p.Val2527Ter
ENST00000700202.2:c.7579del ENSP00000514856.2:p.Val2527Ter
ENST00000700202.1:c.46del ENSP00000514856.1:p.Val16Ter
ENST00000380152.8:c.7579del MANE Select ENSP00000369497.3:p.Val2527Ter
ENST00000544455.6:c.7579del ENSP00000439902.1:p.Val2527Ter
ENST00000614259.2:c.7579del ENSP00000506251.1:p.Val2527Ter
ENST00000665585.1:c.144del
ENST00000680887.1:c.7579del ENSP00000505508.1:p.Val2527Ter
ENST00000380152.7:c.7579del ENSP00000369497.3:p.Val2527Ter
ENST00000544455.5:c.7579del ENSP00000439902.1:p.Val2527Ter
ENST00000614259.1:n.7579del
NM_000059.3:c.7579del , LRG_293t1:c.7579del NP_000050.2:p.Val2527Ter
XM_011535203.1:c.7579del XP_011533505.1:p.Val2527Ter
XM_011535204.1:c.7483del XP_011533506.1:p.Val2495Ter
XM_011535205.1:c.7579del XP_011533507.1:p.Val2527Ter
NM_000059.4:c.7579del MANE Select NP_000050.3:p.Val2527Ter