Canonical Allele Identifier: CA2082823949
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394842C= , CM000675.2:g.32394842C= GRCh38
NC_000013.10:g.32968979C= , CM000675.1:g.32968979C= GRCh37
NC_000013.9:g.31866979C= NCBI36
NG_012772.3:g.84363C= , LRG_293:g.84363C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9410C= ENSP00000434898.2:p.Thr3137=
ENST00000528762.2:c.*777C= ENSP00000433168.2:n.*777C=
ENST00000530893.7:c.9041C= ENSP00000499438.2:p.Thr3014=
ENST00000665585.2:c.*972C= ENSP00000499570.2:n.*972C=
ENST00000666593.2:c.*255C= ENSP00000499256.2:n.*255C=
ENST00000700202.2:c.9359C= ENSP00000514856.2:p.Thr3120=
ENST00000700202.1:c.1826C= ENSP00000514856.1:p.Thr609=
ENST00000700203.1:n.1537C=
ENST00000380152.8:c.9410C= MANE Select ENSP00000369497.3:p.Thr3137=
ENST00000544455.6:c.9410C= ENSP00000439902.1:p.Thr3137=
ENST00000614259.2:c.9418C= ENSP00000506251.1:n.9418C=
ENST00000665585.1:c.2288C=
ENST00000666593.1:c.432C= ENSP00000499256.1:n.432C=
ENST00000680887.1:c.9410C= ENSP00000505508.1:p.Thr3137=
ENST00000380152.7:c.9410C= ENSP00000369497.3:p.Thr3137=
ENST00000470094.1:c.367C=
ENST00000544455.5:c.9410C= ENSP00000439902.1:p.Thr3137=
NM_000059.3:c.9410C= , LRG_293t1:c.9410C= NP_000050.2:p.Thr3137=
XM_011535203.1:c.9410C= XP_011533505.1:p.Thr3137=
XM_011535204.1:c.9314C= XP_011533506.1:p.Thr3105=
NM_000059.4:c.9410C= MANE Select NP_000050.3:p.Thr3137=