Canonical Allele Identifier: CA2082820186
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338084_32338089delinsTATTGA , CM000675.2:g.32338084_32338089delinsTATTGA GRCh38
NC_000013.10:g.32912221_32912226delinsTATTGA , CM000675.1:g.32912221_32912226delinsTATTGA GRCh37
NC_000013.9:g.31810221_31810226delinsTATTGA NCBI36
NG_012772.3:g.27605_27610delinsTATTGA , LRG_293:g.27605_27610delinsTATTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.3729_3734delinsTATTGA ENSP00000434898.2:p.Asp1243=
ENST00000528762.2:c.3729_3734delinsTATTGA ENSP00000433168.2:p.Asp1243=
ENST00000530893.7:c.3360_3365delinsTATTGA ENSP00000499438.2:p.Asp1120=
ENST00000665585.2:c.3729_3734delinsTATTGA ENSP00000499570.2:p.Asp1243=
ENST00000666593.2:c.3729_3734delinsTATTGA ENSP00000499256.2:p.Asp1243=
ENST00000700202.2:c.3729_3734delinsTATTGA ENSP00000514856.2:p.Asp1243=
ENST00000380152.8:c.3729_3734delinsTATTGA MANE Select ENSP00000369497.3:p.Asp1243=
ENST00000544455.6:c.3729_3734delinsTATTGA ENSP00000439902.1:p.Asp1243=
ENST00000614259.2:c.3729_3734delinsTATTGA ENSP00000506251.1:p.Asp1243=
ENST00000680887.1:c.3729_3734delinsTATTGA ENSP00000505508.1:p.Asp1243=
ENST00000380152.7:c.3729_3734delinsTATTGA ENSP00000369497.3:p.Asp1243=
ENST00000544455.5:c.3729_3734delinsTATTGA ENSP00000439902.1:p.Asp1243=
ENST00000614259.1:n.3729_3734delinsTATTGA
NM_000059.3:c.3729_3734delinsTATTGA , LRG_293t1:c.3729_3734delinsTATTGA NP_000050.2:p.Asp1243=
XM_011535203.1:c.3729_3734delinsTATTGA XP_011533505.1:p.Asp1243=
XM_011535204.1:c.3729_3734delinsTATTGA XP_011533506.1:p.Asp1243=
XM_011535205.1:c.3729_3734delinsTATTGA XP_011533507.1:p.Asp1243=
NM_000059.4:c.3729_3734delinsTATTGA MANE Select NP_000050.3:p.Asp1243=