Canonical Allele Identifier: CA10589353
Community Standard Title: NM_000059.4(BRCA2):c.6085_6089del (p.Glu2029TyrfsTer18)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340440_32340444del , CM000675.2:g.32340440_32340444del GRCh38
NC_000013.10:g.32914577_32914581del , CM000675.1:g.32914577_32914581del GRCh37
NC_000013.9:g.31812577_31812581del NCBI36
NG_012772.3:g.29961_29965del , LRG_293:g.29961_29965del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.6085_6089del MANE Select NP_000050.3:p.Glu2029TyrfsTer18
ENST00000380152.8:c.6085_6089del MANE Select ENSP00000369497.3:p.Glu2029TyrfsTer18
NM_000059.3:c.6085_6089del , LRG_293t1:c.6085_6089del NP_000050.2:p.Glu2029TyrfsTer18
ENST00000380152.7:c.6085_6089del ENSP00000369497.3:p.Glu2029TyrfsTer18
ENST00000470094.2:c.6085_6089del ENSP00000434898.2:p.Glu2029TyrfsTer18
ENST00000528762.2:c.6085_6089del ENSP00000433168.2:p.Glu2029TyrfsTer18
ENST00000530893.7:c.5716_5720del ENSP00000499438.2:p.Glu1906TyrfsTer18
ENST00000544455.5:c.6085_6089del ENSP00000439902.1:p.Glu2029TyrfsTer18
ENST00000544455.6:c.6085_6089del ENSP00000439902.1:p.Glu2029TyrfsTer18
ENST00000614259.1:n.6085_6089del
ENST00000614259.2:c.6085_6089del ENSP00000506251.1:p.Glu2029TyrfsTer18
ENST00000665585.2:c.6085_6089del ENSP00000499570.2:p.Glu2029TyrfsTer18
ENST00000666593.2:c.6085_6089del ENSP00000499256.2:p.Glu2029TyrfsTer18
ENST00000680887.1:c.6085_6089del ENSP00000505508.1:p.Glu2029TyrfsTer18
ENST00000700202.2:c.6085_6089del ENSP00000514856.2:p.Glu2029TyrfsTer18
XM_011535203.1:c.6085_6089del XP_011533505.1:p.Glu2029TyrfsTer18
XM_011535204.1:c.6085_6089del XP_011533506.1:p.Glu2029TyrfsTer18
XM_011535205.1:c.6085_6089del XP_011533507.1:p.Glu2029TyrfsTer18