Canonical Allele Identifier: CA2082836720
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398558A= , CM000675.2:g.32398558A= GRCh38
NC_000013.10:g.32972695A= , CM000675.1:g.32972695A= GRCh37
NC_000013.9:g.31870695A= NCBI36
NG_012772.3:g.88079A= , LRG_293:g.88079A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*568A= ENSP00000434898.2:n.*568A=
ENST00000528762.2:c.*1412A= ENSP00000433168.2:n.*1412A=
ENST00000530893.7:c.9676A= ENSP00000499438.2:p.Thr3226=
ENST00000665585.2:c.*1607A= ENSP00000499570.2:n.*1607A=
ENST00000700202.2:c.9994A= ENSP00000514856.2:p.Thr3332=
ENST00000700202.1:c.2461A= ENSP00000514856.1:p.Thr821=
ENST00000700203.1:n.2172A=
ENST00000380152.8:c.10045A= MANE Select ENSP00000369497.3:p.Thr3349=
ENST00000544455.6:c.10045A= ENSP00000439902.1:p.Thr3349=
ENST00000614259.2:c.10053A= ENSP00000506251.1:n.10053A=
ENST00000680887.1:c.10045A= ENSP00000505508.1:p.Thr3349=
ENST00000380152.7:c.10045A= ENSP00000369497.3:p.Thr3349=
ENST00000544455.5:c.10045A= ENSP00000439902.1:p.Thr3349=
NM_000059.3:c.10045A= , LRG_293t1:c.10045A= NP_000050.2:p.Thr3349=
XM_011535203.1:c.10045A= XP_011533505.1:p.Thr3349=
XM_011535204.1:c.9949A= XP_011533506.1:p.Thr3317=
NM_000059.4:c.10045A= MANE Select NP_000050.3:p.Thr3349=