Canonical Allele Identifier: CA2082836649
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398546G= , CM000675.2:g.32398546G= GRCh38
NC_000013.10:g.32972683G= , CM000675.1:g.32972683G= GRCh37
NC_000013.9:g.31870683G= NCBI36
NG_012772.3:g.88067G= , LRG_293:g.88067G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*556G= ENSP00000434898.2:n.*556G=
ENST00000528762.2:c.*1400G= ENSP00000433168.2:n.*1400G=
ENST00000530893.7:c.9664G= ENSP00000499438.2:p.Ala3222=
ENST00000665585.2:c.*1595G= ENSP00000499570.2:n.*1595G=
ENST00000700202.2:c.9982G= ENSP00000514856.2:p.Ala3328=
ENST00000700202.1:c.2449G= ENSP00000514856.1:p.Ala817=
ENST00000700203.1:n.2160G=
ENST00000380152.8:c.10033G= MANE Select ENSP00000369497.3:p.Ala3345=
ENST00000544455.6:c.10033G= ENSP00000439902.1:p.Ala3345=
ENST00000614259.2:c.10041G= ENSP00000506251.1:n.10041G=
ENST00000680887.1:c.10033G= ENSP00000505508.1:p.Ala3345=
ENST00000380152.7:c.10033G= ENSP00000369497.3:p.Ala3345=
ENST00000544455.5:c.10033G= ENSP00000439902.1:p.Ala3345=
NM_000059.3:c.10033G= , LRG_293t1:c.10033G= NP_000050.2:p.Ala3345=
XM_011535203.1:c.10033G= XP_011533505.1:p.Ala3345=
XM_011535204.1:c.9937G= XP_011533506.1:p.Ala3313=
NM_000059.4:c.10033G= MANE Select NP_000050.3:p.Ala3345=