Canonical Allele Identifier: CA919242940
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1566244743

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362552del , CM000675.2:g.32362552del GRCh38
NC_000013.10:g.32936689del , CM000675.1:g.32936689del GRCh37
NC_000013.9:g.31834689del NCBI36
NG_012772.3:g.52073del , LRG_293:g.52073del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7835del ENSP00000434898.2:p.Pro2612GlnfsTer?
ENST00000528762.2:c.7835del ENSP00000433168.2:p.Pro2612GlnfsTer?
ENST00000530893.7:c.7466del ENSP00000499438.2:p.Pro2489GlnfsTer?
ENST00000665585.2:c.7835del ENSP00000499570.2:p.Pro2612GlnfsTer?
ENST00000666593.2:c.7835del ENSP00000499256.2:p.Pro2612GlnfsTer?
ENST00000700202.2:c.7835del ENSP00000514856.2:p.Pro2612GlnfsTer?
ENST00000700202.1:c.302del ENSP00000514856.1:p.Pro101GlnfsTer?
ENST00000380152.8:c.7835del MANE Select ENSP00000369497.3:p.Pro2612GlnfsTer?
ENST00000544455.6:c.7835del ENSP00000439902.1:p.Pro2612GlnfsTer?
ENST00000614259.2:c.7843del ENSP00000506251.1:p.Gln2615LysfsTer5
ENST00000665585.1:c.400del
ENST00000680887.1:c.7835del ENSP00000505508.1:p.Pro2612GlnfsTer?
ENST00000380152.7:c.7835del ENSP00000369497.3:p.Pro2612GlnfsTer?
ENST00000544455.5:c.7835del ENSP00000439902.1:p.Pro2612GlnfsTer?
ENST00000614259.1:n.7843del
NM_000059.3:c.7835del , LRG_293t1:c.7835del NP_000050.2:p.Pro2612GlnfsTer?
XM_011535203.1:c.7835del XP_011533505.1:p.Pro2612GlnfsTer?
XM_011535204.1:c.7739del XP_011533506.1:p.Pro2580GlnfsTer?
XM_011535205.1:c.7835del XP_011533507.1:p.Pro2612GlnfsTer?
NM_000059.4:c.7835del MANE Select NP_000050.3:p.Pro2612GlnfsTer?