Canonical Allele Identifier: CA025941
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141104
dbSNP Id: rs587781497

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379839A>G , CM000675.2:g.32379839A>G GRCh38
NC_000013.10:g.32953976A>G , CM000675.1:g.32953976A>G GRCh37
NC_000013.9:g.31851976A>G NCBI36
NG_012772.3:g.69360A>G , LRG_293:g.69360A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9043A>G ENSP00000434898.2:p.Lys3015Glu
ENST00000528762.2:c.*410A>G ENSP00000433168.2:n.*410A>G
ENST00000530893.7:c.8674A>G ENSP00000499438.2:p.Lys2892Glu
ENST00000665585.2:c.*605A>G ENSP00000499570.2:n.*605A>G
ENST00000666593.2:c.9043A>G ENSP00000499256.2:p.Lys3015Glu
ENST00000700202.2:c.8992A>G ENSP00000514856.2:p.Lys2998Glu
ENST00000700202.1:c.1459A>G ENSP00000514856.1:p.Lys487Glu
ENST00000700203.1:n.1170A>G
ENST00000380152.8:c.9043A>G MANE Select ENSP00000369497.3:p.Lys3015Glu
ENST00000544455.6:c.9043A>G ENSP00000439902.1:p.Lys3015Glu
ENST00000614259.2:c.9051A>G ENSP00000506251.1:n.9051A>G
ENST00000665585.1:c.1921A>G
ENST00000680887.1:c.9043A>G ENSP00000505508.1:p.Lys3015Glu
ENST00000380152.7:c.9043A>G ENSP00000369497.3:p.Lys3015Glu
ENST00000544455.5:c.9043A>G ENSP00000439902.1:p.Lys3015Glu
NM_000059.3:c.9043A>G , LRG_293t1:c.9043A>G NP_000050.2:p.Lys3015Glu
XM_011535203.1:c.9043A>G XP_011533505.1:p.Lys3015Glu
XM_011535204.1:c.8947A>G XP_011533506.1:p.Lys2983Glu
XM_011535205.1:c.*81A>G XP_011533507.1:n.*81A>G
NM_000059.4:c.9043A>G MANE Select NP_000050.3:p.Lys3015Glu