Canonical Allele Identifier: CA2082752149
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32326553_32326555delinsGAT , CM000675.2:g.32326553_32326555delinsGAT GRCh38
NC_000013.10:g.32900690_32900692delinsGAT , CM000675.1:g.32900690_32900692delinsGAT GRCh37
NC_000013.9:g.31798690_31798692delinsGAT NCBI36
NG_012772.3:g.16074_16076delinsGAT , LRG_293:g.16074_16076delinsGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.571_573delinsGAT ENSP00000434898.2:p.Asp191=
ENST00000528762.2:c.571_573delinsGAT ENSP00000433168.2:p.Asp191=
ENST00000530893.7:c.202_204delinsGAT ENSP00000499438.2:p.Asp68=
ENST00000665585.2:c.571_573delinsGAT ENSP00000499570.2:p.Asp191=
ENST00000666593.2:c.571_573delinsGAT ENSP00000499256.2:p.Asp191=
ENST00000700202.2:c.571_573delinsGAT ENSP00000514856.2:p.Asp191=
ENST00000700200.1:n.442_444delinsGAT
ENST00000700201.1:c.*350_*352delinsGAT ENSP00000514855.1:n.*350_*352delinsGAT
ENST00000380152.8:c.571_573delinsGAT MANE Select ENSP00000369497.3:p.Asp191=
ENST00000544455.6:c.571_573delinsGAT ENSP00000439902.1:p.Asp191=
ENST00000614259.2:c.571_573delinsGAT ENSP00000506251.1:p.Asp191=
ENST00000680887.1:c.571_573delinsGAT ENSP00000505508.1:p.Asp191=
ENST00000380152.7:c.571_573delinsGAT ENSP00000369497.3:p.Asp191=
ENST00000530893.6:n.769_771delinsGAT
ENST00000544455.5:c.571_573delinsGAT ENSP00000439902.1:p.Asp191=
ENST00000614259.1:n.571_573delinsGAT
NM_000059.3:c.571_573delinsGAT , LRG_293t1:c.571_573delinsGAT NP_000050.2:p.Asp191=
XM_011535203.1:c.571_573delinsGAT XP_011533505.1:p.Asp191=
XM_011535204.1:c.571_573delinsGAT XP_011533506.1:p.Asp191=
XM_011535205.1:c.571_573delinsGAT XP_011533507.1:p.Asp191=
NM_000059.4:c.571_573delinsGAT MANE Select NP_000050.3:p.Asp191=