Canonical Allele Identifier: CA2082834785
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398259C= , CM000675.2:g.32398259C= GRCh38
NC_000013.10:g.32972396C= , CM000675.1:g.32972396C= GRCh37
NC_000013.9:g.31870396C= NCBI36
NG_012772.3:g.87780C= , LRG_293:g.87780C=

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*269C= ENSP00000434898.2:n.*269C=
ENST00000528762.2:c.*1113C= ENSP00000433168.2:n.*1113C=
ENST00000530893.7:c.9377C= ENSP00000499438.2:p.Thr3126=
ENST00000665585.2:c.*1308C= ENSP00000499570.2:n.*1308C=
ENST00000700202.2:c.9695C= ENSP00000514856.2:p.Thr3232=
ENST00000700202.1:c.2162C= ENSP00000514856.1:p.Thr721=
ENST00000700203.1:n.1873C=
ENST00000380152.8:c.9746C= MANE Select ENSP00000369497.3:p.Thr3249=
ENST00000544455.6:c.9746C= ENSP00000439902.1:p.Thr3249=
ENST00000614259.2:c.9754C= ENSP00000506251.1:n.9754C=
ENST00000680887.1:c.9746C= ENSP00000505508.1:p.Thr3249=
ENST00000380152.7:c.9746C= ENSP00000369497.3:p.Thr3249=
ENST00000470094.1:c.829C=
ENST00000533776.1:n.334C=
ENST00000544455.5:c.9746C= ENSP00000439902.1:p.Thr3249=
NM_000059.3:c.9746C= , LRG_293t1:c.9746C= NP_000050.2:p.Thr3249=
XM_011535203.1:c.9746C= XP_011533505.1:p.Thr3249=
XM_011535204.1:c.9650C= XP_011533506.1:p.Thr3217=
NM_000059.4:c.9746C= MANE Select NP_000050.3:p.Thr3249=