Canonical Allele Identifier: CA2082834141
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398200T= , CM000675.2:g.32398200T= GRCh38
NC_000013.10:g.32972337T= , CM000675.1:g.32972337T= GRCh37
NC_000013.9:g.31870337T= NCBI36
NG_012772.3:g.87721T= , LRG_293:g.87721T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*210T= ENSP00000434898.2:n.*210T=
ENST00000528762.2:c.*1054T= ENSP00000433168.2:n.*1054T=
ENST00000530893.7:c.9318T= ENSP00000499438.2:p.Pro3106=
ENST00000665585.2:c.*1249T= ENSP00000499570.2:n.*1249T=
ENST00000700202.2:c.9636T= ENSP00000514856.2:p.Pro3212=
ENST00000700202.1:c.2103T= ENSP00000514856.1:p.Pro701=
ENST00000700203.1:n.1814T=
ENST00000380152.8:c.9687T= MANE Select ENSP00000369497.3:p.Pro3229=
ENST00000544455.6:c.9687T= ENSP00000439902.1:p.Pro3229=
ENST00000614259.2:c.9695T= ENSP00000506251.1:n.9695T=
ENST00000665585.1:c.2565T=
ENST00000680887.1:c.9687T= ENSP00000505508.1:p.Pro3229=
ENST00000380152.7:c.9687T= ENSP00000369497.3:p.Pro3229=
ENST00000470094.1:c.770T=
ENST00000533776.1:n.275T=
ENST00000544455.5:c.9687T= ENSP00000439902.1:p.Pro3229=
NM_000059.3:c.9687T= , LRG_293t1:c.9687T= NP_000050.2:p.Pro3229=
XM_011535203.1:c.9687T= XP_011533505.1:p.Pro3229=
XM_011535204.1:c.9591T= XP_011533506.1:p.Pro3197=
NM_000059.4:c.9687T= MANE Select NP_000050.3:p.Pro3229=