Canonical Allele Identifier: CA2082834605
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398247C= , CM000675.2:g.32398247C= GRCh38
NC_000013.10:g.32972384C= , CM000675.1:g.32972384C= GRCh37
NC_000013.9:g.31870384C= NCBI36
NG_012772.3:g.87768C= , LRG_293:g.87768C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*257C= ENSP00000434898.2:n.*257C=
ENST00000528762.2:c.*1101C= ENSP00000433168.2:n.*1101C=
ENST00000530893.7:c.9365C= ENSP00000499438.2:p.Ser3122=
ENST00000665585.2:c.*1296C= ENSP00000499570.2:n.*1296C=
ENST00000700202.2:c.9683C= ENSP00000514856.2:p.Ser3228=
ENST00000700202.1:c.2150C= ENSP00000514856.1:p.Ser717=
ENST00000700203.1:n.1861C=
ENST00000380152.8:c.9734C= MANE Select ENSP00000369497.3:p.Ser3245=
ENST00000544455.6:c.9734C= ENSP00000439902.1:p.Ser3245=
ENST00000614259.2:c.9742C= ENSP00000506251.1:n.9742C=
ENST00000680887.1:c.9734C= ENSP00000505508.1:p.Ser3245=
ENST00000380152.7:c.9734C= ENSP00000369497.3:p.Ser3245=
ENST00000470094.1:c.817C=
ENST00000533776.1:n.322C=
ENST00000544455.5:c.9734C= ENSP00000439902.1:p.Ser3245=
NM_000059.3:c.9734C= , LRG_293t1:c.9734C= NP_000050.2:p.Ser3245=
XM_011535203.1:c.9734C= XP_011533505.1:p.Ser3245=
XM_011535204.1:c.9638C= XP_011533506.1:p.Ser3213=
NM_000059.4:c.9734C= MANE Select NP_000050.3:p.Ser3245=