Canonical Allele Identifier: CA025704
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52618
ClinVar RCV Id: RCV000256678 RCV000657232
dbSNP Id: rs397507991
MyVariant Identifiers: chr13:g.32945151del (hg19) chr13:g.32371014del (hg38)
PubMed: PMID:11802209
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371014del , CM000675.2:g.32371014del GRCh38
NC_000013.10:g.32945151del , CM000675.1:g.32945151del GRCh37
NC_000013.9:g.31843151del NCBI36
NG_012772.3:g.60535del , LRG_293:g.60535del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8546del ENSP00000434898.2:p.Lys2849ArgfsTer14
ENST00000528762.2:c.8546del ENSP00000433168.2:p.Lys2849ArgfsTer14
ENST00000530893.7:c.8177del ENSP00000499438.2:p.Lys2726ArgfsTer14
ENST00000665585.2:c.8546del ENSP00000499570.2:p.Lys2849ArgfsTer14
ENST00000666593.2:c.8546del ENSP00000499256.2:p.Lys2849ArgfsTer14
ENST00000700202.2:c.8546del ENSP00000514856.2:p.Lys2849ArgfsTer14
ENST00000700202.1:c.1013del ENSP00000514856.1:p.Lys338ArgfsTer14
ENST00000380152.8:c.8546del MANE Select ENSP00000369497.3:p.Lys2849ArgfsTer14
ENST00000544455.6:c.8546del ENSP00000439902.1:p.Lys2849ArgfsTer14
ENST00000614259.2:c.8554del ENSP00000506251.1:n.8554del
ENST00000665585.1:c.1111del
ENST00000680887.1:c.8546del ENSP00000505508.1:p.Lys2849ArgfsTer14
ENST00000380152.7:c.8546del ENSP00000369497.3:p.Lys2849ArgfsTer14
ENST00000528762.1:c.44del ENSP00000433168.1:p.Lys15ArgfsTer14
ENST00000544455.5:c.8546del ENSP00000439902.1:p.Lys2849ArgfsTer14
NM_000059.3:c.8546del , LRG_293t1:c.8546del NP_000050.2:p.Lys2849ArgfsTer14
XM_011535203.1:c.8546del XP_011533505.1:p.Lys2849ArgfsTer14
XM_011535204.1:c.8450del XP_011533506.1:p.Lys2817ArgfsTer14
XM_011535205.1:c.8546del XP_011533507.1:p.Lys2849ArgfsTer14
NM_000059.4:c.8546del MANE Select NP_000050.3:p.Lys2849ArgfsTer14
Search 100 bp 5'
Search 100 bp 3'