Canonical Allele Identifier: CA6941323
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 652849
ClinVar RCV Id: RCV000808500
dbSNP Id: rs758549281

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379752A>G , CM000675.2:g.32379752A>G GRCh38
NC_000013.10:g.32953889A>G , CM000675.1:g.32953889A>G GRCh37
NC_000013.9:g.31851889A>G NCBI36
NG_012772.3:g.69273A>G , LRG_293:g.69273A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8956A>G ENSP00000434898.2:p.Ile2986Val
ENST00000528762.2:c.*323A>G ENSP00000433168.2:n.*323A>G
ENST00000530893.7:c.8587A>G ENSP00000499438.2:p.Ile2863Val
ENST00000665585.2:c.*518A>G ENSP00000499570.2:n.*518A>G
ENST00000666593.2:c.8956A>G ENSP00000499256.2:p.Ile2986Val
ENST00000700202.2:c.8954-49A>G ENSP00000514856.2:n.8954-49A>G
ENST00000700202.1:c.1421-49A>G ENSP00000514856.1:n.1421-49A>G
ENST00000700203.1:n.1083A>G
ENST00000380152.8:c.8956A>G MANE Select ENSP00000369497.3:p.Ile2986Val
ENST00000544455.6:c.8956A>G ENSP00000439902.1:p.Ile2986Val
ENST00000614259.2:c.8964A>G ENSP00000506251.1:n.8964A>G
ENST00000665585.1:c.1834A>G
ENST00000680887.1:c.8956A>G ENSP00000505508.1:p.Ile2986Val
ENST00000380152.7:c.8956A>G ENSP00000369497.3:p.Ile2986Val
ENST00000544455.5:c.8956A>G ENSP00000439902.1:p.Ile2986Val
NM_000059.3:c.8956A>G , LRG_293t1:c.8956A>G NP_000050.2:p.Ile2986Val
XM_011535203.1:c.8956A>G XP_011533505.1:p.Ile2986Val
XM_011535204.1:c.8860A>G XP_011533506.1:p.Ile2954Val
XM_011535205.1:c.8757A>G XP_011533507.1:p.Leu2919=
NM_000059.4:c.8956A>G MANE Select NP_000050.3:p.Ile2986Val