Canonical Allele Identifier: CA2082836040
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398446C= , CM000675.2:g.32398446C= GRCh38
NC_000013.10:g.32972583C= , CM000675.1:g.32972583C= GRCh37
NC_000013.9:g.31870583C= NCBI36
NG_012772.3:g.87967C= , LRG_293:g.87967C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*456C= ENSP00000434898.2:n.*456C=
ENST00000528762.2:c.*1300C= ENSP00000433168.2:n.*1300C=
ENST00000530893.7:c.9564C= ENSP00000499438.2:p.Pro3188=
ENST00000665585.2:c.*1495C= ENSP00000499570.2:n.*1495C=
ENST00000700202.2:c.9882C= ENSP00000514856.2:p.Pro3294=
ENST00000700202.1:c.2349C= ENSP00000514856.1:p.Pro783=
ENST00000700203.1:n.2060C=
ENST00000380152.8:c.9933C= MANE Select ENSP00000369497.3:p.Pro3311=
ENST00000544455.6:c.9933C= ENSP00000439902.1:p.Pro3311=
ENST00000614259.2:c.9941C= ENSP00000506251.1:n.9941C=
ENST00000680887.1:c.9933C= ENSP00000505508.1:p.Pro3311=
ENST00000380152.7:c.9933C= ENSP00000369497.3:p.Pro3311=
ENST00000533776.1:n.521C=
ENST00000544455.5:c.9933C= ENSP00000439902.1:p.Pro3311=
NM_000059.3:c.9933C= , LRG_293t1:c.9933C= NP_000050.2:p.Pro3311=
XM_011535203.1:c.9933C= XP_011533505.1:p.Pro3311=
XM_011535204.1:c.9837C= XP_011533506.1:p.Pro3279=
NM_000059.4:c.9933C= MANE Select NP_000050.3:p.Pro3311=