Canonical Allele Identifier: CA2082835946
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398430C= , CM000675.2:g.32398430C= GRCh38
NC_000013.10:g.32972567C= , CM000675.1:g.32972567C= GRCh37
NC_000013.9:g.31870567C= NCBI36
NG_012772.3:g.87951C= , LRG_293:g.87951C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*440C= ENSP00000434898.2:n.*440C=
ENST00000528762.2:c.*1284C= ENSP00000433168.2:n.*1284C=
ENST00000530893.7:c.9548C= ENSP00000499438.2:p.Thr3183=
ENST00000665585.2:c.*1479C= ENSP00000499570.2:n.*1479C=
ENST00000700202.2:c.9866C= ENSP00000514856.2:p.Thr3289=
ENST00000700202.1:c.2333C= ENSP00000514856.1:p.Thr778=
ENST00000700203.1:n.2044C=
ENST00000380152.8:c.9917C= MANE Select ENSP00000369497.3:p.Thr3306=
ENST00000544455.6:c.9917C= ENSP00000439902.1:p.Thr3306=
ENST00000614259.2:c.9925C= ENSP00000506251.1:n.9925C=
ENST00000680887.1:c.9917C= ENSP00000505508.1:p.Thr3306=
ENST00000380152.7:c.9917C= ENSP00000369497.3:p.Thr3306=
ENST00000533776.1:n.505C=
ENST00000544455.5:c.9917C= ENSP00000439902.1:p.Thr3306=
NM_000059.3:c.9917C= , LRG_293t1:c.9917C= NP_000050.2:p.Thr3306=
XM_011535203.1:c.9917C= XP_011533505.1:p.Thr3306=
XM_011535204.1:c.9821C= XP_011533506.1:p.Thr3274=
NM_000059.4:c.9917C= MANE Select NP_000050.3:p.Thr3306=