Canonical Allele Identifier: CA2082784009
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319254_32319256delinsAAG , CM000675.2:g.32319254_32319256delinsAAG GRCh38
NC_000013.10:g.32893391_32893393delinsAAG , CM000675.1:g.32893391_32893393delinsAAG GRCh37
NC_000013.9:g.31791391_31791393delinsAAG NCBI36
NG_012772.3:g.8775_8777delinsAAG , LRG_293:g.8775_8777delinsAAG
NG_017006.2:g.1108_1110delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.245_247delinsAAG ENSP00000434898.2:p.Lys82=
ENST00000528762.2:c.245_247delinsAAG ENSP00000433168.2:p.Lys82=
ENST00000530893.7:c.-125_-123delinsAAG ENSP00000499438.2:n.-125_-123delinsAAG
ENST00000665585.2:c.245_247delinsAAG ENSP00000499570.2:p.Lys82=
ENST00000666593.2:c.245_247delinsAAG ENSP00000499256.2:p.Lys82=
ENST00000700202.2:c.245_247delinsAAG ENSP00000514856.2:p.Lys82=
ENST00000700200.1:n.191+2727_191+2729delinsAAG
ENST00000700201.1:c.245_247delinsAAG ENSP00000514855.1:p.Lys82=
ENST00000380152.8:c.245_247delinsAAG MANE Select ENSP00000369497.3:p.Lys82=
ENST00000544455.6:c.245_247delinsAAG ENSP00000439902.1:p.Lys82=
ENST00000614259.2:c.245_247delinsAAG ENSP00000506251.1:p.Lys82=
ENST00000680887.1:c.245_247delinsAAG ENSP00000505508.1:p.Lys82=
ENST00000380152.7:c.245_247delinsAAG ENSP00000369497.3:p.Lys82=
ENST00000530893.6:n.443_445delinsAAG
ENST00000544455.5:c.245_247delinsAAG ENSP00000439902.1:p.Lys82=
ENST00000614259.1:n.245_247delinsAAG
NM_000059.3:c.245_247delinsAAG , LRG_293t1:c.245_247delinsAAG NP_000050.2:p.Lys82=
XM_011535203.1:c.245_247delinsAAG XP_011533505.1:p.Lys82=
XM_011535204.1:c.245_247delinsAAG XP_011533506.1:p.Lys82=
XM_011535205.1:c.245_247delinsAAG XP_011533507.1:p.Lys82=
NM_000059.4:c.245_247delinsAAG MANE Select NP_000050.3:p.Lys82=