Canonical Allele Identifier: CA2082836736
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379507_32379509delinsAAG , CM000675.2:g.32379507_32379509delinsAAG GRCh38
NC_000013.10:g.32953644_32953646delinsAAG , CM000675.1:g.32953644_32953646delinsAAG GRCh37
NC_000013.9:g.31851644_31851646delinsAAG NCBI36
NG_012772.3:g.69028_69030delinsAAG , LRG_293:g.69028_69030delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8945_8947delinsAAG ENSP00000434898.2:p.Lys2982=
ENST00000528762.2:c.*312_*314delinsAAG ENSP00000433168.2:n.*312_*314delinsAAG
ENST00000530893.7:c.8576_8578delinsAAG ENSP00000499438.2:p.Lys2859=
ENST00000665585.2:c.*507_*509delinsAAG ENSP00000499570.2:n.*507_*509delinsAAG
ENST00000666593.2:c.8945_8947delinsAAG ENSP00000499256.2:p.Lys2982=
ENST00000700202.2:c.8945_8947delinsAAG ENSP00000514856.2:p.Lys2982=
ENST00000700202.1:c.1412_1414delinsAAG ENSP00000514856.1:p.Lys471=
ENST00000700203.1:n.1072_1074delinsAAG
ENST00000380152.8:c.8945_8947delinsAAG MANE Select ENSP00000369497.3:p.Lys2982=
ENST00000544455.6:c.8945_8947delinsAAG ENSP00000439902.1:p.Lys2982=
ENST00000614259.2:c.8953_8955delinsAAG ENSP00000506251.1:n.8953_8955delinsAAG
ENST00000665585.1:c.1823_1825delinsAAG
ENST00000680887.1:c.8945_8947delinsAAG ENSP00000505508.1:p.Lys2982=
ENST00000380152.7:c.8945_8947delinsAAG ENSP00000369497.3:p.Lys2982=
ENST00000544455.5:c.8945_8947delinsAAG ENSP00000439902.1:p.Lys2982=
NM_000059.3:c.8945_8947delinsAAG , LRG_293t1:c.8945_8947delinsAAG NP_000050.2:p.Lys2982=
XM_011535203.1:c.8945_8947delinsAAG XP_011533505.1:p.Lys2982=
XM_011535204.1:c.8849_8851delinsAAG XP_011533506.1:p.Lys2950=
XM_011535205.1:c.8755-243_8755-241delinsAAG XP_011533507.1:n.8755-243_8755-241delinsAAG
NM_000059.4:c.8945_8947delinsAAG MANE Select NP_000050.3:p.Lys2982=