Canonical Allele Identifier: CA2082835358
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398333T= , CM000675.2:g.32398333T= GRCh38
NC_000013.10:g.32972470T= , CM000675.1:g.32972470T= GRCh37
NC_000013.9:g.31870470T= NCBI36
NG_012772.3:g.87854T= , LRG_293:g.87854T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*343T= ENSP00000434898.2:n.*343T=
ENST00000528762.2:c.*1187T= ENSP00000433168.2:n.*1187T=
ENST00000530893.7:c.9451T= ENSP00000499438.2:p.Leu3151=
ENST00000665585.2:c.*1382T= ENSP00000499570.2:n.*1382T=
ENST00000700202.2:c.9769T= ENSP00000514856.2:p.Leu3257=
ENST00000700202.1:c.2236T= ENSP00000514856.1:p.Leu746=
ENST00000700203.1:n.1947T=
ENST00000380152.8:c.9820T= MANE Select ENSP00000369497.3:p.Leu3274=
ENST00000544455.6:c.9820T= ENSP00000439902.1:p.Leu3274=
ENST00000614259.2:c.9828T= ENSP00000506251.1:n.9828T=
ENST00000680887.1:c.9820T= ENSP00000505508.1:p.Leu3274=
ENST00000380152.7:c.9820T= ENSP00000369497.3:p.Leu3274=
ENST00000533776.1:n.408T=
ENST00000544455.5:c.9820T= ENSP00000439902.1:p.Leu3274=
NM_000059.3:c.9820T= , LRG_293t1:c.9820T= NP_000050.2:p.Leu3274=
XM_011535203.1:c.9820T= XP_011533505.1:p.Leu3274=
XM_011535204.1:c.9724T= XP_011533506.1:p.Leu3242=
NM_000059.4:c.9820T= MANE Select NP_000050.3:p.Leu3274=