Canonical Allele Identifier: CA2082835647
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398382T= , CM000675.2:g.32398382T= GRCh38
NC_000013.10:g.32972519T= , CM000675.1:g.32972519T= GRCh37
NC_000013.9:g.31870519T= NCBI36
NG_012772.3:g.87903T= , LRG_293:g.87903T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*392T= ENSP00000434898.2:n.*392T=
ENST00000528762.2:c.*1236T= ENSP00000433168.2:n.*1236T=
ENST00000530893.7:c.9500T= ENSP00000499438.2:p.Val3167=
ENST00000665585.2:c.*1431T= ENSP00000499570.2:n.*1431T=
ENST00000700202.2:c.9818T= ENSP00000514856.2:p.Val3273=
ENST00000700202.1:c.2285T= ENSP00000514856.1:p.Val762=
ENST00000700203.1:n.1996T=
ENST00000380152.8:c.9869T= MANE Select ENSP00000369497.3:p.Val3290=
ENST00000544455.6:c.9869T= ENSP00000439902.1:p.Val3290=
ENST00000614259.2:c.9877T= ENSP00000506251.1:n.9877T=
ENST00000680887.1:c.9869T= ENSP00000505508.1:p.Val3290=
ENST00000380152.7:c.9869T= ENSP00000369497.3:p.Val3290=
ENST00000533776.1:n.457T=
ENST00000544455.5:c.9869T= ENSP00000439902.1:p.Val3290=
NM_000059.3:c.9869T= , LRG_293t1:c.9869T= NP_000050.2:p.Val3290=
XM_011535203.1:c.9869T= XP_011533505.1:p.Val3290=
XM_011535204.1:c.9773T= XP_011533506.1:p.Val3258=
NM_000059.4:c.9869T= MANE Select NP_000050.3:p.Val3290=