Canonical Allele Identifier: CA010393
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 185931
dbSNP Id: rs786202571

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398672A>T , CM000675.2:g.32398672A>T GRCh38
NC_000013.10:g.32972809A>T , CM000675.1:g.32972809A>T GRCh37
NC_000013.9:g.31870809A>T NCBI36
NG_012772.3:g.88193A>T , LRG_293:g.88193A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*682A>T ENSP00000434898.2:n.*682A>T
ENST00000528762.2:c.*1526A>T ENSP00000433168.2:n.*1526A>T
ENST00000530893.7:c.9790A>T ENSP00000499438.2:p.Thr3264Ser
ENST00000665585.2:c.*1721A>T ENSP00000499570.2:n.*1721A>T
ENST00000700202.2:c.10108A>T ENSP00000514856.2:p.Thr3370Ser
ENST00000700202.1:c.2575A>T ENSP00000514856.1:p.Thr859Ser
ENST00000700203.1:n.2286A>T
ENST00000380152.8:c.10159A>T MANE Select ENSP00000369497.3:p.Thr3387Ser
ENST00000544455.6:c.10159A>T ENSP00000439902.1:p.Thr3387Ser
ENST00000614259.2:c.10167A>T ENSP00000506251.1:n.10167A>T
ENST00000680887.1:c.10159A>T ENSP00000505508.1:p.Thr3387Ser
ENST00000380152.7:c.10159A>T ENSP00000369497.3:p.Thr3387Ser
ENST00000544455.5:c.10159A>T ENSP00000439902.1:p.Thr3387Ser
NM_000059.3:c.10159A>T , LRG_293t1:c.10159A>T NP_000050.2:p.Thr3387Ser
XM_011535203.1:c.10159A>T XP_011533505.1:p.Thr3387Ser
XM_011535204.1:c.10063A>T XP_011533506.1:p.Thr3355Ser
NM_000059.4:c.10159A>T MANE Select NP_000050.3:p.Thr3387Ser