Canonical Allele Identifier: CA2082837703
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398661A= , CM000675.2:g.32398661A= GRCh38
NC_000013.10:g.32972798A= , CM000675.1:g.32972798A= GRCh37
NC_000013.9:g.31870798A= NCBI36
NG_012772.3:g.88182A= , LRG_293:g.88182A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*671A= ENSP00000434898.2:n.*671A=
ENST00000528762.2:c.*1515A= ENSP00000433168.2:n.*1515A=
ENST00000530893.7:c.9779A= ENSP00000499438.2:p.Lys3260=
ENST00000665585.2:c.*1710A= ENSP00000499570.2:n.*1710A=
ENST00000700202.2:c.10097A= ENSP00000514856.2:p.Lys3366=
ENST00000700202.1:c.2564A= ENSP00000514856.1:p.Lys855=
ENST00000700203.1:n.2275A=
ENST00000380152.8:c.10148A= MANE Select ENSP00000369497.3:p.Lys3383=
ENST00000544455.6:c.10148A= ENSP00000439902.1:p.Lys3383=
ENST00000614259.2:c.10156A= ENSP00000506251.1:n.10156A=
ENST00000680887.1:c.10148A= ENSP00000505508.1:p.Lys3383=
ENST00000380152.7:c.10148A= ENSP00000369497.3:p.Lys3383=
ENST00000544455.5:c.10148A= ENSP00000439902.1:p.Lys3383=
NM_000059.3:c.10148A= , LRG_293t1:c.10148A= NP_000050.2:p.Lys3383=
XM_011535203.1:c.10148A= XP_011533505.1:p.Lys3383=
XM_011535204.1:c.10052A= XP_011533506.1:p.Lys3351=
NM_000059.4:c.10148A= MANE Select NP_000050.3:p.Lys3383=