Canonical Allele Identifier: CA2082834906
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398276G= , CM000675.2:g.32398276G= GRCh38
NC_000013.10:g.32972413G= , CM000675.1:g.32972413G= GRCh37
NC_000013.9:g.31870413G= NCBI36
NG_012772.3:g.87797G= , LRG_293:g.87797G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*286G= ENSP00000434898.2:n.*286G=
ENST00000528762.2:c.*1130G= ENSP00000433168.2:n.*1130G=
ENST00000530893.7:c.9394G= ENSP00000499438.2:p.Gly3132=
ENST00000665585.2:c.*1325G= ENSP00000499570.2:n.*1325G=
ENST00000700202.2:c.9712G= ENSP00000514856.2:p.Gly3238=
ENST00000700202.1:c.2179G= ENSP00000514856.1:p.Gly727=
ENST00000700203.1:n.1890G=
ENST00000380152.8:c.9763G= MANE Select ENSP00000369497.3:p.Gly3255=
ENST00000544455.6:c.9763G= ENSP00000439902.1:p.Gly3255=
ENST00000614259.2:c.9771G= ENSP00000506251.1:n.9771G=
ENST00000680887.1:c.9763G= ENSP00000505508.1:p.Gly3255=
ENST00000380152.7:c.9763G= ENSP00000369497.3:p.Gly3255=
ENST00000533776.1:n.351G=
ENST00000544455.5:c.9763G= ENSP00000439902.1:p.Gly3255=
NM_000059.3:c.9763G= , LRG_293t1:c.9763G= NP_000050.2:p.Gly3255=
XM_011535203.1:c.9763G= XP_011533505.1:p.Gly3255=
XM_011535204.1:c.9667G= XP_011533506.1:p.Gly3223=
NM_000059.4:c.9763G= MANE Select NP_000050.3:p.Gly3255=