Canonical Allele Identifier: CA2082836859
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398574C= , CM000675.2:g.32398574C= GRCh38
NC_000013.10:g.32972711C= , CM000675.1:g.32972711C= GRCh37
NC_000013.9:g.31870711C= NCBI36
NG_012772.3:g.88095C= , LRG_293:g.88095C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*584C= ENSP00000434898.2:n.*584C=
ENST00000528762.2:c.*1428C= ENSP00000433168.2:n.*1428C=
ENST00000530893.7:c.9692C= ENSP00000499438.2:p.Ser3231=
ENST00000665585.2:c.*1623C= ENSP00000499570.2:n.*1623C=
ENST00000700202.2:c.10010C= ENSP00000514856.2:p.Ser3337=
ENST00000700202.1:c.2477C= ENSP00000514856.1:p.Ser826=
ENST00000700203.1:n.2188C=
ENST00000380152.8:c.10061C= MANE Select ENSP00000369497.3:p.Ser3354=
ENST00000544455.6:c.10061C= ENSP00000439902.1:p.Ser3354=
ENST00000614259.2:c.10069C= ENSP00000506251.1:n.10069C=
ENST00000680887.1:c.10061C= ENSP00000505508.1:p.Ser3354=
ENST00000380152.7:c.10061C= ENSP00000369497.3:p.Ser3354=
ENST00000544455.5:c.10061C= ENSP00000439902.1:p.Ser3354=
NM_000059.3:c.10061C= , LRG_293t1:c.10061C= NP_000050.2:p.Ser3354=
XM_011535203.1:c.10061C= XP_011533505.1:p.Ser3354=
XM_011535204.1:c.9965C= XP_011533506.1:p.Ser3322=
NM_000059.4:c.10061C= MANE Select NP_000050.3:p.Ser3354=