Canonical Allele Identifier: CA025305
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52425
ClinVar RCV Id: RCV000162059 RCV000496617 RCV000522847 RCV000773101
dbSNP Id: rs397507940
MyVariant Identifiers: chr13:g.32936700del (hg19) chr13:g.32362563del (hg38)
PubMed: PMID:11802209
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362563del , CM000675.2:g.32362563del GRCh38
NC_000013.10:g.32936700del , CM000675.1:g.32936700del GRCh37
NC_000013.9:g.31834700del NCBI36
NG_012772.3:g.52084del , LRG_293:g.52084del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7846del ENSP00000434898.2:p.Ser2616LeufsTer?
ENST00000528762.2:c.7846del ENSP00000433168.2:p.Ser2616LeufsTer?
ENST00000530893.7:c.7477del ENSP00000499438.2:p.Ser2493LeufsTer?
ENST00000665585.2:c.7846del ENSP00000499570.2:p.Ser2616LeufsTer?
ENST00000666593.2:c.7846del ENSP00000499256.2:p.Ser2616LeufsTer?
ENST00000700202.2:c.7846del ENSP00000514856.2:p.Ser2616LeufsTer?
ENST00000700202.1:c.313del ENSP00000514856.1:p.Ser105LeufsTer?
ENST00000380152.8:c.7846del MANE Select ENSP00000369497.3:p.Ser2616LeufsTer?
ENST00000544455.6:c.7846del ENSP00000439902.1:p.Ser2616LeufsTer?
ENST00000614259.2:c.7854del ENSP00000506251.1:p.Leu2619Ter
ENST00000665585.1:c.411del
ENST00000680887.1:c.7846del ENSP00000505508.1:p.Ser2616LeufsTer?
ENST00000380152.7:c.7846del ENSP00000369497.3:p.Ser2616LeufsTer?
ENST00000544455.5:c.7846del ENSP00000439902.1:p.Ser2616LeufsTer?
ENST00000614259.1:n.7854del
NM_000059.3:c.7846del , LRG_293t1:c.7846del NP_000050.2:p.Ser2616LeufsTer?
XM_011535203.1:c.7846del XP_011533505.1:p.Ser2616LeufsTer?
XM_011535204.1:c.7750del XP_011533506.1:p.Ser2584LeufsTer?
XM_011535205.1:c.7846del XP_011533507.1:p.Ser2616LeufsTer?
NM_000059.4:c.7846del MANE Select NP_000050.3:p.Ser2616LeufsTer?
Search 100 bp 5'
Search 100 bp 3'