Canonical Allele Identifier: CA2082834715
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398252C= , CM000675.2:g.32398252C= GRCh38
NC_000013.10:g.32972389C= , CM000675.1:g.32972389C= GRCh37
NC_000013.9:g.31870389C= NCBI36
NG_012772.3:g.87773C= , LRG_293:g.87773C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*262C= ENSP00000434898.2:n.*262C=
ENST00000528762.2:c.*1106C= ENSP00000433168.2:n.*1106C=
ENST00000530893.7:c.9370C= ENSP00000499438.2:p.Gln3124=
ENST00000665585.2:c.*1301C= ENSP00000499570.2:n.*1301C=
ENST00000700202.2:c.9688C= ENSP00000514856.2:p.Gln3230=
ENST00000700202.1:c.2155C= ENSP00000514856.1:p.Gln719=
ENST00000700203.1:n.1866C=
ENST00000380152.8:c.9739C= MANE Select ENSP00000369497.3:p.Gln3247=
ENST00000544455.6:c.9739C= ENSP00000439902.1:p.Gln3247=
ENST00000614259.2:c.9747C= ENSP00000506251.1:n.9747C=
ENST00000680887.1:c.9739C= ENSP00000505508.1:p.Gln3247=
ENST00000380152.7:c.9739C= ENSP00000369497.3:p.Gln3247=
ENST00000470094.1:c.822C=
ENST00000533776.1:n.327C=
ENST00000544455.5:c.9739C= ENSP00000439902.1:p.Gln3247=
NM_000059.3:c.9739C= , LRG_293t1:c.9739C= NP_000050.2:p.Gln3247=
XM_011535203.1:c.9739C= XP_011533505.1:p.Gln3247=
XM_011535204.1:c.9643C= XP_011533506.1:p.Gln3215=
NM_000059.4:c.9739C= MANE Select NP_000050.3:p.Gln3247=