Canonical Allele Identifier: CA010072
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51035
dbSNP Id: rs28897761

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398537G>T , CM000675.2:g.32398537G>T GRCh38
NC_000013.10:g.32972674G>T , CM000675.1:g.32972674G>T GRCh37
NC_000013.9:g.31870674G>T NCBI36
NG_012772.3:g.88058G>T , LRG_293:g.88058G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*547G>T ENSP00000434898.2:n.*547G>T
ENST00000528762.2:c.*1391G>T ENSP00000433168.2:n.*1391G>T
ENST00000530893.7:c.9655G>T ENSP00000499438.2:p.Glu3219Ter
ENST00000665585.2:c.*1586G>T ENSP00000499570.2:n.*1586G>T
ENST00000700202.2:c.9973G>T ENSP00000514856.2:p.Glu3325Ter
ENST00000700202.1:c.2440G>T ENSP00000514856.1:p.Glu814Ter
ENST00000700203.1:n.2151G>T
ENST00000380152.8:c.10024G>T MANE Select ENSP00000369497.3:p.Glu3342Ter
ENST00000544455.6:c.10024G>T ENSP00000439902.1:p.Glu3342Ter
ENST00000614259.2:c.10032G>T ENSP00000506251.1:n.10032G>T
ENST00000680887.1:c.10024G>T ENSP00000505508.1:p.Glu3342Ter
ENST00000380152.7:c.10024G>T ENSP00000369497.3:p.Glu3342Ter
ENST00000544455.5:c.10024G>T ENSP00000439902.1:p.Glu3342Ter
NM_000059.3:c.10024G>T , LRG_293t1:c.10024G>T NP_000050.2:p.Glu3342Ter
XM_011535203.1:c.10024G>T XP_011533505.1:p.Glu3342Ter
XM_011535204.1:c.9928G>T XP_011533506.1:p.Glu3310Ter
NM_000059.4:c.10024G>T MANE Select NP_000050.3:p.Glu3342Ter