Canonical Allele Identifier: CA2082834080
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398191T= , CM000675.2:g.32398191T= GRCh38
NC_000013.10:g.32972328T= , CM000675.1:g.32972328T= GRCh37
NC_000013.9:g.31870328T= NCBI36
NG_012772.3:g.87712T= , LRG_293:g.87712T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*201T= ENSP00000434898.2:n.*201T=
ENST00000528762.2:c.*1045T= ENSP00000433168.2:n.*1045T=
ENST00000530893.7:c.9309T= ENSP00000499438.2:p.Tyr3103=
ENST00000665585.2:c.*1240T= ENSP00000499570.2:n.*1240T=
ENST00000700202.2:c.9627T= ENSP00000514856.2:p.Tyr3209=
ENST00000700202.1:c.2094T= ENSP00000514856.1:p.Tyr698=
ENST00000700203.1:n.1805T=
ENST00000380152.8:c.9678T= MANE Select ENSP00000369497.3:p.Tyr3226=
ENST00000544455.6:c.9678T= ENSP00000439902.1:p.Tyr3226=
ENST00000614259.2:c.9686T= ENSP00000506251.1:n.9686T=
ENST00000665585.1:c.2556T=
ENST00000680887.1:c.9678T= ENSP00000505508.1:p.Tyr3226=
ENST00000380152.7:c.9678T= ENSP00000369497.3:p.Tyr3226=
ENST00000470094.1:c.761T=
ENST00000533776.1:n.266T=
ENST00000544455.5:c.9678T= ENSP00000439902.1:p.Tyr3226=
NM_000059.3:c.9678T= , LRG_293t1:c.9678T= NP_000050.2:p.Tyr3226=
XM_011535203.1:c.9678T= XP_011533505.1:p.Tyr3226=
XM_011535204.1:c.9582T= XP_011533506.1:p.Tyr3194=
NM_000059.4:c.9678T= MANE Select NP_000050.3:p.Tyr3226=