Canonical Allele Identifier: CA2082837053
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398598T= , CM000675.2:g.32398598T= GRCh38
NC_000013.10:g.32972735T= , CM000675.1:g.32972735T= GRCh37
NC_000013.9:g.31870735T= NCBI36
NG_012772.3:g.88119T= , LRG_293:g.88119T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*608T= ENSP00000434898.2:n.*608T=
ENST00000528762.2:c.*1452T= ENSP00000433168.2:n.*1452T=
ENST00000530893.7:c.9716T= ENSP00000499438.2:p.Phe3239=
ENST00000665585.2:c.*1647T= ENSP00000499570.2:n.*1647T=
ENST00000700202.2:c.10034T= ENSP00000514856.2:p.Phe3345=
ENST00000700202.1:c.2501T= ENSP00000514856.1:p.Phe834=
ENST00000700203.1:n.2212T=
ENST00000380152.8:c.10085T= MANE Select ENSP00000369497.3:p.Phe3362=
ENST00000544455.6:c.10085T= ENSP00000439902.1:p.Phe3362=
ENST00000614259.2:c.10093T= ENSP00000506251.1:n.10093T=
ENST00000680887.1:c.10085T= ENSP00000505508.1:p.Phe3362=
ENST00000380152.7:c.10085T= ENSP00000369497.3:p.Phe3362=
ENST00000544455.5:c.10085T= ENSP00000439902.1:p.Phe3362=
NM_000059.3:c.10085T= , LRG_293t1:c.10085T= NP_000050.2:p.Phe3362=
XM_011535203.1:c.10085T= XP_011533505.1:p.Phe3362=
XM_011535204.1:c.9989T= XP_011533506.1:p.Phe3330=
NM_000059.4:c.10085T= MANE Select NP_000050.3:p.Phe3362=