Canonical Allele Identifier: CA2082836046
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398447A= , CM000675.2:g.32398447A= GRCh38
NC_000013.10:g.32972584A= , CM000675.1:g.32972584A= GRCh37
NC_000013.9:g.31870584A= NCBI36
NG_012772.3:g.87968A= , LRG_293:g.87968A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*457A= ENSP00000434898.2:n.*457A=
ENST00000528762.2:c.*1301A= ENSP00000433168.2:n.*1301A=
ENST00000530893.7:c.9565A= ENSP00000499438.2:p.Ile3189=
ENST00000665585.2:c.*1496A= ENSP00000499570.2:n.*1496A=
ENST00000700202.2:c.9883A= ENSP00000514856.2:p.Ile3295=
ENST00000700202.1:c.2350A= ENSP00000514856.1:p.Ile784=
ENST00000700203.1:n.2061A=
ENST00000380152.8:c.9934A= MANE Select ENSP00000369497.3:p.Ile3312=
ENST00000544455.6:c.9934A= ENSP00000439902.1:p.Ile3312=
ENST00000614259.2:c.9942A= ENSP00000506251.1:n.9942A=
ENST00000680887.1:c.9934A= ENSP00000505508.1:p.Ile3312=
ENST00000380152.7:c.9934A= ENSP00000369497.3:p.Ile3312=
ENST00000533776.1:n.522A=
ENST00000544455.5:c.9934A= ENSP00000439902.1:p.Ile3312=
NM_000059.3:c.9934A= , LRG_293t1:c.9934A= NP_000050.2:p.Ile3312=
XM_011535203.1:c.9934A= XP_011533505.1:p.Ile3312=
XM_011535204.1:c.9838A= XP_011533506.1:p.Ile3280=
NM_000059.4:c.9934A= MANE Select NP_000050.3:p.Ile3312=