Canonical Allele Identifier: CA2082834531
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32363222_32363224delinsAAG , CM000675.2:g.32363222_32363224delinsAAG GRCh38
NC_000013.10:g.32937359_32937361delinsAAG , CM000675.1:g.32937359_32937361delinsAAG GRCh37
NC_000013.9:g.31835359_31835361delinsAAG NCBI36
NG_012772.3:g.52743_52745delinsAAG , LRG_293:g.52743_52745delinsAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8020_8022delinsAAG ENSP00000434898.2:p.Lys2674=
ENST00000528762.2:c.8020_8022delinsAAG ENSP00000433168.2:p.Lys2674=
ENST00000530893.7:c.7651_7653delinsAAG ENSP00000499438.2:p.Lys2551=
ENST00000665585.2:c.8020_8022delinsAAG ENSP00000499570.2:p.Lys2674=
ENST00000666593.2:c.8020_8022delinsAAG ENSP00000499256.2:p.Lys2674=
ENST00000700202.2:c.8020_8022delinsAAG ENSP00000514856.2:p.Lys2674=
ENST00000700202.1:c.487_489delinsAAG ENSP00000514856.1:p.Lys163=
ENST00000380152.8:c.8020_8022delinsAAG MANE Select ENSP00000369497.3:p.Lys2674=
ENST00000544455.6:c.8020_8022delinsAAG ENSP00000439902.1:p.Lys2674=
ENST00000614259.2:c.8028_8030delinsAAG ENSP00000506251.1:n.8028_8030delinsAAG
ENST00000665585.1:c.585_587delinsAAG
ENST00000680887.1:c.8020_8022delinsAAG ENSP00000505508.1:p.Lys2674=
ENST00000380152.7:c.8020_8022delinsAAG ENSP00000369497.3:p.Lys2674=
ENST00000544455.5:c.8020_8022delinsAAG ENSP00000439902.1:p.Lys2674=
NM_000059.3:c.8020_8022delinsAAG , LRG_293t1:c.8020_8022delinsAAG NP_000050.2:p.Lys2674=
XM_011535203.1:c.8020_8022delinsAAG XP_011533505.1:p.Lys2674=
XM_011535204.1:c.7924_7926delinsAAG XP_011533506.1:p.Lys2642=
XM_011535205.1:c.8020_8022delinsAAG XP_011533507.1:p.Lys2674=
NM_000059.4:c.8020_8022delinsAAG MANE Select NP_000050.3:p.Lys2674=