Canonical Allele Identifier: CA2082835891
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398419G= , CM000675.2:g.32398419G= GRCh38
NC_000013.10:g.32972556G= , CM000675.1:g.32972556G= GRCh37
NC_000013.9:g.31870556G= NCBI36
NG_012772.3:g.87940G= , LRG_293:g.87940G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*429G= ENSP00000434898.2:n.*429G=
ENST00000528762.2:c.*1273G= ENSP00000433168.2:n.*1273G=
ENST00000530893.7:c.9537G= ENSP00000499438.2:p.Arg3179=
ENST00000665585.2:c.*1468G= ENSP00000499570.2:n.*1468G=
ENST00000700202.2:c.9855G= ENSP00000514856.2:p.Arg3285=
ENST00000700202.1:c.2322G= ENSP00000514856.1:p.Arg774=
ENST00000700203.1:n.2033G=
ENST00000380152.8:c.9906G= MANE Select ENSP00000369497.3:p.Arg3302=
ENST00000544455.6:c.9906G= ENSP00000439902.1:p.Arg3302=
ENST00000614259.2:c.9914G= ENSP00000506251.1:n.9914G=
ENST00000680887.1:c.9906G= ENSP00000505508.1:p.Arg3302=
ENST00000380152.7:c.9906G= ENSP00000369497.3:p.Arg3302=
ENST00000533776.1:n.494G=
ENST00000544455.5:c.9906G= ENSP00000439902.1:p.Arg3302=
NM_000059.3:c.9906G= , LRG_293t1:c.9906G= NP_000050.2:p.Arg3302=
XM_011535203.1:c.9906G= XP_011533505.1:p.Arg3302=
XM_011535204.1:c.9810G= XP_011533506.1:p.Arg3270=
NM_000059.4:c.9906G= MANE Select NP_000050.3:p.Arg3302=