Canonical Allele Identifier: CA919242906
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1566248626

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32370405del , CM000675.2:g.32370405del GRCh38
NC_000013.10:g.32944542del , CM000675.1:g.32944542del GRCh37
NC_000013.9:g.31842542del NCBI36
NG_012772.3:g.59926del , LRG_293:g.59926del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8335del ENSP00000434898.2:p.Ser2779LeufsTer?
ENST00000528762.2:c.8335del ENSP00000433168.2:p.Ser2779LeufsTer?
ENST00000530893.7:c.7966del ENSP00000499438.2:p.Ser2656LeufsTer?
ENST00000665585.2:c.8335del ENSP00000499570.2:p.Ser2779LeufsTer?
ENST00000666593.2:c.8335del ENSP00000499256.2:p.Ser2779LeufsTer?
ENST00000700202.2:c.8335del ENSP00000514856.2:p.Ser2779LeufsTer?
ENST00000700202.1:c.802del ENSP00000514856.1:p.Ser268LeufsTer?
ENST00000380152.8:c.8335del MANE Select ENSP00000369497.3:p.Ser2779LeufsTer?
ENST00000544455.6:c.8335del ENSP00000439902.1:p.Ser2779LeufsTer?
ENST00000614259.2:c.8343del ENSP00000506251.1:n.8343del
ENST00000665585.1:c.900del
ENST00000680887.1:c.8335del ENSP00000505508.1:p.Ser2779LeufsTer?
ENST00000380152.7:c.8335del ENSP00000369497.3:p.Ser2779LeufsTer?
ENST00000544455.5:c.8335del ENSP00000439902.1:p.Ser2779LeufsTer?
NM_000059.3:c.8335del , LRG_293t1:c.8335del NP_000050.2:p.Ser2779LeufsTer?
XM_011535203.1:c.8335del XP_011533505.1:p.Ser2779LeufsTer?
XM_011535204.1:c.8239del XP_011533506.1:p.Ser2747LeufsTer?
XM_011535205.1:c.8335del XP_011533507.1:p.Ser2779LeufsTer?
NM_000059.4:c.8335del MANE Select NP_000050.3:p.Ser2779LeufsTer?