Canonical Allele Identifier: CA387760833
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137652186

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394719A>G , CM000675.2:g.32394719A>G GRCh38
NC_000013.10:g.32968856A>G , CM000675.1:g.32968856A>G GRCh37
NC_000013.9:g.31866856A>G NCBI36
NG_012772.3:g.84240A>G , LRG_293:g.84240A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9287A>G ENSP00000434898.2:p.Glu3096Gly
ENST00000528762.2:c.*654A>G ENSP00000433168.2:n.*654A>G
ENST00000530893.7:c.8918A>G ENSP00000499438.2:p.Glu2973Gly
ENST00000665585.2:c.*849A>G ENSP00000499570.2:n.*849A>G
ENST00000666593.2:c.*132A>G ENSP00000499256.2:n.*132A>G
ENST00000700202.2:c.9236A>G ENSP00000514856.2:p.Glu3079Gly
ENST00000700202.1:c.1703A>G ENSP00000514856.1:p.Glu568Gly
ENST00000700203.1:n.1414A>G
ENST00000380152.8:c.9287A>G MANE Select ENSP00000369497.3:p.Glu3096Gly
ENST00000544455.6:c.9287A>G ENSP00000439902.1:p.Glu3096Gly
ENST00000614259.2:c.9295A>G ENSP00000506251.1:n.9295A>G
ENST00000665585.1:c.2165A>G
ENST00000666593.1:c.309A>G ENSP00000499256.1:n.309A>G
ENST00000680887.1:c.9287A>G ENSP00000505508.1:p.Glu3096Gly
ENST00000380152.7:c.9287A>G ENSP00000369497.3:p.Glu3096Gly
ENST00000470094.1:c.244A>G
ENST00000544455.5:c.9287A>G ENSP00000439902.1:p.Glu3096Gly
NM_000059.3:c.9287A>G , LRG_293t1:c.9287A>G NP_000050.2:p.Glu3096Gly
XM_011535203.1:c.9287A>G XP_011533505.1:p.Glu3096Gly
XM_011535204.1:c.9191A>G XP_011533506.1:p.Glu3064Gly
NM_000059.4:c.9287A>G MANE Select NP_000050.3:p.Glu3096Gly