Canonical Allele Identifier: CA2082838020
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398697A= , CM000675.2:g.32398697A= GRCh38
NC_000013.10:g.32972834A= , CM000675.1:g.32972834A= GRCh37
NC_000013.9:g.31870834A= NCBI36
NG_012772.3:g.88218A= , LRG_293:g.88218A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*707A= ENSP00000434898.2:n.*707A=
ENST00000528762.2:c.*1551A= ENSP00000433168.2:n.*1551A=
ENST00000530893.7:c.9815A= ENSP00000499438.2:p.Glu3272=
ENST00000665585.2:c.*1746A= ENSP00000499570.2:n.*1746A=
ENST00000700202.2:c.10133A= ENSP00000514856.2:p.Glu3378=
ENST00000700202.1:c.2600A= ENSP00000514856.1:p.Glu867=
ENST00000700203.1:n.2311A=
ENST00000380152.8:c.10184A= MANE Select ENSP00000369497.3:p.Glu3395=
ENST00000544455.6:c.10184A= ENSP00000439902.1:p.Glu3395=
ENST00000614259.2:c.10192A= ENSP00000506251.1:n.10192A=
ENST00000680887.1:c.10184A= ENSP00000505508.1:p.Glu3395=
ENST00000380152.7:c.10184A= ENSP00000369497.3:p.Glu3395=
ENST00000544455.5:c.10184A= ENSP00000439902.1:p.Glu3395=
NM_000059.3:c.10184A= , LRG_293t1:c.10184A= NP_000050.2:p.Glu3395=
XM_011535203.1:c.10184A= XP_011533505.1:p.Glu3395=
XM_011535204.1:c.10088A= XP_011533506.1:p.Glu3363=
NM_000059.4:c.10184A= MANE Select NP_000050.3:p.Glu3395=