Canonical Allele Identifier: CA2580087298
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1795819
ClinVar RCV Id: RCV002439629

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337127_32337130del , CM000675.2:g.32337127_32337130del GRCh38
NC_000013.10:g.32911264_32911267del , CM000675.1:g.32911264_32911267del GRCh37
NC_000013.9:g.31809264_31809267del NCBI36
NG_012772.3:g.26648_26651del , LRG_293:g.26648_26651del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.2772_2775del ENSP00000434898.2:p.Asn924LysfsTer?
ENST00000528762.2:c.2772_2775del ENSP00000433168.2:p.Asn924LysfsTer?
ENST00000530893.7:c.2403_2406del ENSP00000499438.2:p.Asn801LysfsTer?
ENST00000665585.2:c.2772_2775del ENSP00000499570.2:p.Asn924LysfsTer?
ENST00000666593.2:c.2772_2775del ENSP00000499256.2:p.Asn924LysfsTer?
ENST00000700202.2:c.2772_2775del ENSP00000514856.2:p.Asn924LysfsTer?
ENST00000380152.8:c.2772_2775del MANE Select ENSP00000369497.3:p.Asn924LysfsTer?
ENST00000544455.6:c.2772_2775del ENSP00000439902.1:p.Asn924LysfsTer?
ENST00000614259.2:c.2772_2775del ENSP00000506251.1:p.Asn924LysfsTer?
ENST00000680887.1:c.2772_2775del ENSP00000505508.1:p.Asn924LysfsTer?
ENST00000380152.7:c.2772_2775del ENSP00000369497.3:p.Asn924LysfsTer?
ENST00000544455.5:c.2772_2775del ENSP00000439902.1:p.Asn924LysfsTer?
ENST00000614259.1:n.2772_2775del
NM_000059.3:c.2772_2775del , LRG_293t1:c.2772_2775del NP_000050.2:p.Asn924LysfsTer?
XM_011535203.1:c.2772_2775del XP_011533505.1:p.Asn924LysfsTer?
XM_011535204.1:c.2772_2775del XP_011533506.1:p.Asn924LysfsTer?
XM_011535205.1:c.2772_2775del XP_011533507.1:p.Asn924LysfsTer?
NM_000059.4:c.2772_2775del MANE Select NP_000050.3:p.Asn924LysfsTer?