Canonical Allele Identifier: CA2082836033
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398445C= , CM000675.2:g.32398445C= GRCh38
NC_000013.10:g.32972582C= , CM000675.1:g.32972582C= GRCh37
NC_000013.9:g.31870582C= NCBI36
NG_012772.3:g.87966C= , LRG_293:g.87966C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*455C= ENSP00000434898.2:n.*455C=
ENST00000528762.2:c.*1299C= ENSP00000433168.2:n.*1299C=
ENST00000530893.7:c.9563C= ENSP00000499438.2:p.Pro3188=
ENST00000665585.2:c.*1494C= ENSP00000499570.2:n.*1494C=
ENST00000700202.2:c.9881C= ENSP00000514856.2:p.Pro3294=
ENST00000700202.1:c.2348C= ENSP00000514856.1:p.Pro783=
ENST00000700203.1:n.2059C=
ENST00000380152.8:c.9932C= MANE Select ENSP00000369497.3:p.Pro3311=
ENST00000544455.6:c.9932C= ENSP00000439902.1:p.Pro3311=
ENST00000614259.2:c.9940C= ENSP00000506251.1:n.9940C=
ENST00000680887.1:c.9932C= ENSP00000505508.1:p.Pro3311=
ENST00000380152.7:c.9932C= ENSP00000369497.3:p.Pro3311=
ENST00000533776.1:n.520C=
ENST00000544455.5:c.9932C= ENSP00000439902.1:p.Pro3311=
NM_000059.3:c.9932C= , LRG_293t1:c.9932C= NP_000050.2:p.Pro3311=
XM_011535203.1:c.9932C= XP_011533505.1:p.Pro3311=
XM_011535204.1:c.9836C= XP_011533506.1:p.Pro3279=
NM_000059.4:c.9932C= MANE Select NP_000050.3:p.Pro3311=