Canonical Allele Identifier: CA2082835942
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398429A= , CM000675.2:g.32398429A= GRCh38
NC_000013.10:g.32972566A= , CM000675.1:g.32972566A= GRCh37
NC_000013.9:g.31870566A= NCBI36
NG_012772.3:g.87950A= , LRG_293:g.87950A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*439A= ENSP00000434898.2:n.*439A=
ENST00000528762.2:c.*1283A= ENSP00000433168.2:n.*1283A=
ENST00000530893.7:c.9547A= ENSP00000499438.2:p.Thr3183=
ENST00000665585.2:c.*1478A= ENSP00000499570.2:n.*1478A=
ENST00000700202.2:c.9865A= ENSP00000514856.2:p.Thr3289=
ENST00000700202.1:c.2332A= ENSP00000514856.1:p.Thr778=
ENST00000700203.1:n.2043A=
ENST00000380152.8:c.9916A= MANE Select ENSP00000369497.3:p.Thr3306=
ENST00000544455.6:c.9916A= ENSP00000439902.1:p.Thr3306=
ENST00000614259.2:c.9924A= ENSP00000506251.1:n.9924A=
ENST00000680887.1:c.9916A= ENSP00000505508.1:p.Thr3306=
ENST00000380152.7:c.9916A= ENSP00000369497.3:p.Thr3306=
ENST00000533776.1:n.504A=
ENST00000544455.5:c.9916A= ENSP00000439902.1:p.Thr3306=
NM_000059.3:c.9916A= , LRG_293t1:c.9916A= NP_000050.2:p.Thr3306=
XM_011535203.1:c.9916A= XP_011533505.1:p.Thr3306=
XM_011535204.1:c.9820A= XP_011533506.1:p.Thr3274=
NM_000059.4:c.9916A= MANE Select NP_000050.3:p.Thr3306=