Canonical Allele Identifier: CA2082836670
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398551G= , CM000675.2:g.32398551G= GRCh38
NC_000013.10:g.32972688G= , CM000675.1:g.32972688G= GRCh37
NC_000013.9:g.31870688G= NCBI36
NG_012772.3:g.88072G= , LRG_293:g.88072G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*561G= ENSP00000434898.2:n.*561G=
ENST00000528762.2:c.*1405G= ENSP00000433168.2:n.*1405G=
ENST00000530893.7:c.9669G= ENSP00000499438.2:p.Leu3223=
ENST00000665585.2:c.*1600G= ENSP00000499570.2:n.*1600G=
ENST00000700202.2:c.9987G= ENSP00000514856.2:p.Leu3329=
ENST00000700202.1:c.2454G= ENSP00000514856.1:p.Leu818=
ENST00000700203.1:n.2165G=
ENST00000380152.8:c.10038G= MANE Select ENSP00000369497.3:p.Leu3346=
ENST00000544455.6:c.10038G= ENSP00000439902.1:p.Leu3346=
ENST00000614259.2:c.10046G= ENSP00000506251.1:n.10046G=
ENST00000680887.1:c.10038G= ENSP00000505508.1:p.Leu3346=
ENST00000380152.7:c.10038G= ENSP00000369497.3:p.Leu3346=
ENST00000544455.5:c.10038G= ENSP00000439902.1:p.Leu3346=
NM_000059.3:c.10038G= , LRG_293t1:c.10038G= NP_000050.2:p.Leu3346=
XM_011535203.1:c.10038G= XP_011533505.1:p.Leu3346=
XM_011535204.1:c.9942G= XP_011533506.1:p.Leu3314=
NM_000059.4:c.10038G= MANE Select NP_000050.3:p.Leu3346=