Canonical Allele Identifier: CA010372
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 37722
dbSNP Id: rs80358398

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398667G>A , CM000675.2:g.32398667G>A GRCh38
NC_000013.10:g.32972804G>A , CM000675.1:g.32972804G>A GRCh37
NC_000013.9:g.31870804G>A NCBI36
NG_012772.3:g.88188G>A , LRG_293:g.88188G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*677G>A ENSP00000434898.2:n.*677G>A
ENST00000528762.2:c.*1521G>A ENSP00000433168.2:n.*1521G>A
ENST00000530893.7:c.9785G>A ENSP00000499438.2:p.Arg3262His
ENST00000665585.2:c.*1716G>A ENSP00000499570.2:n.*1716G>A
ENST00000700202.2:c.10103G>A ENSP00000514856.2:p.Arg3368His
ENST00000700202.1:c.2570G>A ENSP00000514856.1:p.Arg857His
ENST00000700203.1:n.2281G>A
ENST00000380152.8:c.10154G>A MANE Select ENSP00000369497.3:p.Arg3385His
ENST00000544455.6:c.10154G>A ENSP00000439902.1:p.Arg3385His
ENST00000614259.2:c.10162G>A ENSP00000506251.1:n.10162G>A
ENST00000680887.1:c.10154G>A ENSP00000505508.1:p.Arg3385His
ENST00000380152.7:c.10154G>A ENSP00000369497.3:p.Arg3385His
ENST00000544455.5:c.10154G>A ENSP00000439902.1:p.Arg3385His
NM_000059.3:c.10154G>A , LRG_293t1:c.10154G>A NP_000050.2:p.Arg3385His
XM_011535203.1:c.10154G>A XP_011533505.1:p.Arg3385His
XM_011535204.1:c.10058G>A XP_011533506.1:p.Arg3353His
NM_000059.4:c.10154G>A MANE Select NP_000050.3:p.Arg3385His