Canonical Allele Identifier: CA2082836845
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398572G= , CM000675.2:g.32398572G= GRCh38
NC_000013.10:g.32972709G= , CM000675.1:g.32972709G= GRCh37
NC_000013.9:g.31870709G= NCBI36
NG_012772.3:g.88093G= , LRG_293:g.88093G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*582G= ENSP00000434898.2:n.*582G=
ENST00000528762.2:c.*1426G= ENSP00000433168.2:n.*1426G=
ENST00000530893.7:c.9690G= ENSP00000499438.2:p.Leu3230=
ENST00000665585.2:c.*1621G= ENSP00000499570.2:n.*1621G=
ENST00000700202.2:c.10008G= ENSP00000514856.2:p.Leu3336=
ENST00000700202.1:c.2475G= ENSP00000514856.1:p.Leu825=
ENST00000700203.1:n.2186G=
ENST00000380152.8:c.10059G= MANE Select ENSP00000369497.3:p.Leu3353=
ENST00000544455.6:c.10059G= ENSP00000439902.1:p.Leu3353=
ENST00000614259.2:c.10067G= ENSP00000506251.1:n.10067G=
ENST00000680887.1:c.10059G= ENSP00000505508.1:p.Leu3353=
ENST00000380152.7:c.10059G= ENSP00000369497.3:p.Leu3353=
ENST00000544455.5:c.10059G= ENSP00000439902.1:p.Leu3353=
NM_000059.3:c.10059G= , LRG_293t1:c.10059G= NP_000050.2:p.Leu3353=
XM_011535203.1:c.10059G= XP_011533505.1:p.Leu3353=
XM_011535204.1:c.9963G= XP_011533506.1:p.Leu3321=
NM_000059.4:c.10059G= MANE Select NP_000050.3:p.Leu3353=