Canonical Allele Identifier: CA387765840
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137663703

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398286A>G , CM000675.2:g.32398286A>G GRCh38
NC_000013.10:g.32972423A>G , CM000675.1:g.32972423A>G GRCh37
NC_000013.9:g.31870423A>G NCBI36
NG_012772.3:g.87807A>G , LRG_293:g.87807A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*296A>G ENSP00000434898.2:n.*296A>G
ENST00000528762.2:c.*1140A>G ENSP00000433168.2:n.*1140A>G
ENST00000530893.7:c.9404A>G ENSP00000499438.2:p.Glu3135Gly
ENST00000665585.2:c.*1335A>G ENSP00000499570.2:n.*1335A>G
ENST00000700202.2:c.9722A>G ENSP00000514856.2:p.Glu3241Gly
ENST00000700202.1:c.2189A>G ENSP00000514856.1:p.Glu730Gly
ENST00000700203.1:n.1900A>G
ENST00000380152.8:c.9773A>G MANE Select ENSP00000369497.3:p.Glu3258Gly
ENST00000544455.6:c.9773A>G ENSP00000439902.1:p.Glu3258Gly
ENST00000614259.2:c.9781A>G ENSP00000506251.1:n.9781A>G
ENST00000680887.1:c.9773A>G ENSP00000505508.1:p.Glu3258Gly
ENST00000380152.7:c.9773A>G ENSP00000369497.3:p.Glu3258Gly
ENST00000533776.1:n.361A>G
ENST00000544455.5:c.9773A>G ENSP00000439902.1:p.Glu3258Gly
NM_000059.3:c.9773A>G , LRG_293t1:c.9773A>G NP_000050.2:p.Glu3258Gly
XM_011535203.1:c.9773A>G XP_011533505.1:p.Glu3258Gly
XM_011535204.1:c.9677A>G XP_011533506.1:p.Glu3226Gly
NM_000059.4:c.9773A>G MANE Select NP_000050.3:p.Glu3258Gly