Canonical Allele Identifier: CA2082835923
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379411A= , CM000675.2:g.32379411A= GRCh38
NC_000013.10:g.32953548A= , CM000675.1:g.32953548A= GRCh37
NC_000013.9:g.31851548A= NCBI36
NG_012772.3:g.68932A= , LRG_293:g.68932A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8849A= ENSP00000434898.2:p.Lys2950=
ENST00000528762.2:c.*216A= ENSP00000433168.2:n.*216A=
ENST00000530893.7:c.8480A= ENSP00000499438.2:p.Lys2827=
ENST00000665585.2:c.*411A= ENSP00000499570.2:n.*411A=
ENST00000666593.2:c.8849A= ENSP00000499256.2:p.Lys2950=
ENST00000700202.2:c.8849A= ENSP00000514856.2:p.Lys2950=
ENST00000700202.1:c.1316A= ENSP00000514856.1:p.Lys439=
ENST00000700203.1:n.976A=
ENST00000380152.8:c.8849A= MANE Select ENSP00000369497.3:p.Lys2950=
ENST00000544455.6:c.8849A= ENSP00000439902.1:p.Lys2950=
ENST00000614259.2:c.8857A= ENSP00000506251.1:n.8857A=
ENST00000665585.1:c.1727A=
ENST00000680887.1:c.8849A= ENSP00000505508.1:p.Lys2950=
ENST00000380152.7:c.8849A= ENSP00000369497.3:p.Lys2950=
ENST00000528762.1:c.411A= ENSP00000433168.1:n.411A=
ENST00000544455.5:c.8849A= ENSP00000439902.1:p.Lys2950=
NM_000059.3:c.8849A= , LRG_293t1:c.8849A= NP_000050.2:p.Lys2950=
XM_011535203.1:c.8849A= XP_011533505.1:p.Lys2950=
XM_011535204.1:c.8753A= XP_011533506.1:p.Lys2918=
XM_011535205.1:c.8755-339A= XP_011533507.1:n.8755-339A=
NM_000059.4:c.8849A= MANE Select NP_000050.3:p.Lys2950=