Canonical Allele Identifier: CA387767020
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs730881577

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398427G>T , CM000675.2:g.32398427G>T GRCh38
NC_000013.10:g.32972564G>T , CM000675.1:g.32972564G>T GRCh37
NC_000013.9:g.31870564G>T NCBI36
NG_012772.3:g.87948G>T , LRG_293:g.87948G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*437G>T ENSP00000434898.2:n.*437G>T
ENST00000528762.2:c.*1281G>T ENSP00000433168.2:n.*1281G>T
ENST00000530893.7:c.9545G>T ENSP00000499438.2:p.Gly3182Val
ENST00000665585.2:c.*1476G>T ENSP00000499570.2:n.*1476G>T
ENST00000700202.2:c.9863G>T ENSP00000514856.2:p.Gly3288Val
ENST00000700202.1:c.2330G>T ENSP00000514856.1:p.Gly777Val
ENST00000700203.1:n.2041G>T
ENST00000380152.8:c.9914G>T MANE Select ENSP00000369497.3:p.Gly3305Val
ENST00000544455.6:c.9914G>T ENSP00000439902.1:p.Gly3305Val
ENST00000614259.2:c.9922G>T ENSP00000506251.1:n.9922G>T
ENST00000680887.1:c.9914G>T ENSP00000505508.1:p.Gly3305Val
ENST00000380152.7:c.9914G>T ENSP00000369497.3:p.Gly3305Val
ENST00000533776.1:n.502G>T
ENST00000544455.5:c.9914G>T ENSP00000439902.1:p.Gly3305Val
NM_000059.3:c.9914G>T , LRG_293t1:c.9914G>T NP_000050.2:p.Gly3305Val
XM_011535203.1:c.9914G>T XP_011533505.1:p.Gly3305Val
XM_011535204.1:c.9818G>T XP_011533506.1:p.Gly3273Val
NM_000059.4:c.9914G>T MANE Select NP_000050.3:p.Gly3305Val