Canonical Allele Identifier: CA2082834967
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398279G= , CM000675.2:g.32398279G= GRCh38
NC_000013.10:g.32972416G= , CM000675.1:g.32972416G= GRCh37
NC_000013.9:g.31870416G= NCBI36
NG_012772.3:g.87800G= , LRG_293:g.87800G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*289G= ENSP00000434898.2:n.*289G=
ENST00000528762.2:c.*1133G= ENSP00000433168.2:n.*1133G=
ENST00000530893.7:c.9397G= ENSP00000499438.2:p.Glu3133=
ENST00000665585.2:c.*1328G= ENSP00000499570.2:n.*1328G=
ENST00000700202.2:c.9715G= ENSP00000514856.2:p.Glu3239=
ENST00000700202.1:c.2182G= ENSP00000514856.1:p.Glu728=
ENST00000700203.1:n.1893G=
ENST00000380152.8:c.9766G= MANE Select ENSP00000369497.3:p.Glu3256=
ENST00000544455.6:c.9766G= ENSP00000439902.1:p.Glu3256=
ENST00000614259.2:c.9774G= ENSP00000506251.1:n.9774G=
ENST00000680887.1:c.9766G= ENSP00000505508.1:p.Glu3256=
ENST00000380152.7:c.9766G= ENSP00000369497.3:p.Glu3256=
ENST00000533776.1:n.354G=
ENST00000544455.5:c.9766G= ENSP00000439902.1:p.Glu3256=
NM_000059.3:c.9766G= , LRG_293t1:c.9766G= NP_000050.2:p.Glu3256=
XM_011535203.1:c.9766G= XP_011533505.1:p.Glu3256=
XM_011535204.1:c.9670G= XP_011533506.1:p.Glu3224=
NM_000059.4:c.9766G= MANE Select NP_000050.3:p.Glu3256=