Canonical Allele Identifier: CA2082822812
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394763G= , CM000675.2:g.32394763G= GRCh38
NC_000013.10:g.32968900G= , CM000675.1:g.32968900G= GRCh37
NC_000013.9:g.31866900G= NCBI36
NG_012772.3:g.84284G= , LRG_293:g.84284G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9331G= ENSP00000434898.2:p.Glu3111=
ENST00000528762.2:c.*698G= ENSP00000433168.2:n.*698G=
ENST00000530893.7:c.8962G= ENSP00000499438.2:p.Glu2988=
ENST00000665585.2:c.*893G= ENSP00000499570.2:n.*893G=
ENST00000666593.2:c.*176G= ENSP00000499256.2:n.*176G=
ENST00000700202.2:c.9280G= ENSP00000514856.2:p.Glu3094=
ENST00000700202.1:c.1747G= ENSP00000514856.1:p.Glu583=
ENST00000700203.1:n.1458G=
ENST00000380152.8:c.9331G= MANE Select ENSP00000369497.3:p.Glu3111=
ENST00000544455.6:c.9331G= ENSP00000439902.1:p.Glu3111=
ENST00000614259.2:c.9339G= ENSP00000506251.1:n.9339G=
ENST00000665585.1:c.2209G=
ENST00000666593.1:c.353G= ENSP00000499256.1:n.353G=
ENST00000680887.1:c.9331G= ENSP00000505508.1:p.Glu3111=
ENST00000380152.7:c.9331G= ENSP00000369497.3:p.Glu3111=
ENST00000470094.1:c.288G=
ENST00000544455.5:c.9331G= ENSP00000439902.1:p.Glu3111=
NM_000059.3:c.9331G= , LRG_293t1:c.9331G= NP_000050.2:p.Glu3111=
XM_011535203.1:c.9331G= XP_011533505.1:p.Glu3111=
XM_011535204.1:c.9235G= XP_011533506.1:p.Glu3079=
NM_000059.4:c.9331G= MANE Select NP_000050.3:p.Glu3111=