Canonical Allele Identifier: CA017053
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51386
dbSNP Id: rs397507650

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337369_32337370dup , CM000675.2:g.32337369_32337370dup GRCh38
NC_000013.10:g.32911506_32911507dup , CM000675.1:g.32911506_32911507dup GRCh37
NC_000013.9:g.31809506_31809507dup NCBI36
NG_012772.3:g.26890_26891dup , LRG_293:g.26890_26891dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.3014_3015dup ENSP00000434898.2:p.Gly1006LeufsTer?
ENST00000528762.2:c.3014_3015dup ENSP00000433168.2:p.Gly1006LeufsTer?
ENST00000530893.7:c.2645_2646dup ENSP00000499438.2:p.Gly883LeufsTer?
ENST00000665585.2:c.3014_3015dup ENSP00000499570.2:p.Gly1006LeufsTer?
ENST00000666593.2:c.3014_3015dup ENSP00000499256.2:p.Gly1006LeufsTer?
ENST00000700202.2:c.3014_3015dup ENSP00000514856.2:p.Gly1006LeufsTer?
ENST00000380152.8:c.3014_3015dup MANE Select ENSP00000369497.3:p.Gly1006LeufsTer?
ENST00000544455.6:c.3014_3015dup ENSP00000439902.1:p.Gly1006LeufsTer?
ENST00000614259.2:c.3014_3015dup ENSP00000506251.1:p.Gly1006LeufsTer?
ENST00000680887.1:c.3014_3015dup ENSP00000505508.1:p.Gly1006LeufsTer?
ENST00000380152.7:c.3014_3015dup ENSP00000369497.3:p.Gly1006LeufsTer?
ENST00000544455.5:c.3014_3015dup ENSP00000439902.1:p.Gly1006LeufsTer?
ENST00000614259.1:n.3014_3015dup
NM_000059.3:c.3014_3015dup , LRG_293t1:c.3014_3015dup NP_000050.2:p.Gly1006LeufsTer?
XM_011535203.1:c.3014_3015dup XP_011533505.1:p.Gly1006LeufsTer?
XM_011535204.1:c.3014_3015dup XP_011533506.1:p.Gly1006LeufsTer?
XM_011535205.1:c.3014_3015dup XP_011533507.1:p.Gly1006LeufsTer?
NM_000059.4:c.3014_3015dup MANE Select NP_000050.3:p.Gly1006LeufsTer?