Canonical Allele Identifier: CA2082835327
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398323C= , CM000675.2:g.32398323C= GRCh38
NC_000013.10:g.32972460C= , CM000675.1:g.32972460C= GRCh37
NC_000013.9:g.31870460C= NCBI36
NG_012772.3:g.87844C= , LRG_293:g.87844C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*333C= ENSP00000434898.2:n.*333C=
ENST00000528762.2:c.*1177C= ENSP00000433168.2:n.*1177C=
ENST00000530893.7:c.9441C= ENSP00000499438.2:p.Ala3147=
ENST00000665585.2:c.*1372C= ENSP00000499570.2:n.*1372C=
ENST00000700202.2:c.9759C= ENSP00000514856.2:p.Ala3253=
ENST00000700202.1:c.2226C= ENSP00000514856.1:p.Ala742=
ENST00000700203.1:n.1937C=
ENST00000380152.8:c.9810C= MANE Select ENSP00000369497.3:p.Ala3270=
ENST00000544455.6:c.9810C= ENSP00000439902.1:p.Ala3270=
ENST00000614259.2:c.9818C= ENSP00000506251.1:n.9818C=
ENST00000680887.1:c.9810C= ENSP00000505508.1:p.Ala3270=
ENST00000380152.7:c.9810C= ENSP00000369497.3:p.Ala3270=
ENST00000533776.1:n.398C=
ENST00000544455.5:c.9810C= ENSP00000439902.1:p.Ala3270=
NM_000059.3:c.9810C= , LRG_293t1:c.9810C= NP_000050.2:p.Ala3270=
XM_011535203.1:c.9810C= XP_011533505.1:p.Ala3270=
XM_011535204.1:c.9714C= XP_011533506.1:p.Ala3238=
NM_000059.4:c.9810C= MANE Select NP_000050.3:p.Ala3270=