Canonical Allele Identifier: CA2082835854
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398415C= , CM000675.2:g.32398415C= GRCh38
NC_000013.10:g.32972552C= , CM000675.1:g.32972552C= GRCh37
NC_000013.9:g.31870552C= NCBI36
NG_012772.3:g.87936C= , LRG_293:g.87936C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*425C= ENSP00000434898.2:n.*425C=
ENST00000528762.2:c.*1269C= ENSP00000433168.2:n.*1269C=
ENST00000530893.7:c.9533C= ENSP00000499438.2:p.Pro3178=
ENST00000665585.2:c.*1464C= ENSP00000499570.2:n.*1464C=
ENST00000700202.2:c.9851C= ENSP00000514856.2:p.Pro3284=
ENST00000700202.1:c.2318C= ENSP00000514856.1:p.Pro773=
ENST00000700203.1:n.2029C=
ENST00000380152.8:c.9902C= MANE Select ENSP00000369497.3:p.Pro3301=
ENST00000544455.6:c.9902C= ENSP00000439902.1:p.Pro3301=
ENST00000614259.2:c.9910C= ENSP00000506251.1:n.9910C=
ENST00000680887.1:c.9902C= ENSP00000505508.1:p.Pro3301=
ENST00000380152.7:c.9902C= ENSP00000369497.3:p.Pro3301=
ENST00000533776.1:n.490C=
ENST00000544455.5:c.9902C= ENSP00000439902.1:p.Pro3301=
NM_000059.3:c.9902C= , LRG_293t1:c.9902C= NP_000050.2:p.Pro3301=
XM_011535203.1:c.9902C= XP_011533505.1:p.Pro3301=
XM_011535204.1:c.9806C= XP_011533506.1:p.Pro3269=
NM_000059.4:c.9902C= MANE Select NP_000050.3:p.Pro3301=