Canonical Allele Identifier: CA025869
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52701
ClinVar RCV Id: RCV000045655 RCV000257384 RCV000657233
dbSNP Id: rs397508019
MyVariant Identifiers: chr13:g.32953614del (hg19) chr13:g.32379477del (hg38)
PubMed: PMID:18006916
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379477del , CM000675.2:g.32379477del GRCh38
NC_000013.10:g.32953614del , CM000675.1:g.32953614del GRCh37
NC_000013.9:g.31851614del NCBI36
NG_012772.3:g.68998del , LRG_293:g.68998del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8915del ENSP00000434898.2:p.Leu2972CysfsTer4
ENST00000528762.2:c.*282del ENSP00000433168.2:n.*282del
ENST00000530893.7:c.8546del ENSP00000499438.2:p.Leu2849CysfsTer4
ENST00000665585.2:c.*477del ENSP00000499570.2:n.*477del
ENST00000666593.2:c.8915del ENSP00000499256.2:p.Leu2972CysfsTer4
ENST00000700202.2:c.8915del ENSP00000514856.2:p.Leu2972CysfsTer4
ENST00000700202.1:c.1382del ENSP00000514856.1:p.Leu461CysfsTer4
ENST00000700203.1:n.1042del
ENST00000380152.8:c.8915del MANE Select ENSP00000369497.3:p.Leu2972CysfsTer4
ENST00000544455.6:c.8915del ENSP00000439902.1:p.Leu2972CysfsTer4
ENST00000614259.2:c.8923del ENSP00000506251.1:n.8923del
ENST00000665585.1:c.1793del
ENST00000680887.1:c.8915del ENSP00000505508.1:p.Leu2972CysfsTer4
ENST00000380152.7:c.8915del ENSP00000369497.3:p.Leu2972CysfsTer4
ENST00000528762.1:c.477del ENSP00000433168.1:n.477del
ENST00000544455.5:c.8915del ENSP00000439902.1:p.Leu2972CysfsTer4
NM_000059.3:c.8915del , LRG_293t1:c.8915del NP_000050.2:p.Leu2972CysfsTer4
XM_011535203.1:c.8915del XP_011533505.1:p.Leu2972CysfsTer4
XM_011535204.1:c.8819del XP_011533506.1:p.Leu2940CysfsTer4
XM_011535205.1:c.8755-273del XP_011533507.1:n.8755-273del
NM_000059.4:c.8915del MANE Select NP_000050.3:p.Leu2972CysfsTer4
Search 100 bp 5'
Search 100 bp 3'