Canonical Allele Identifier: CA2082769407

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333072_32333074delinsGAA , CM000675.2:g.32333072_32333074delinsGAA	GRCh38
NC_000013.10:g.32907209_32907211delinsGAA , CM000675.1:g.32907209_32907211delinsGAA	GRCh37
NC_000013.9:g.31805209_31805211delinsGAA	NCBI36
NG_012772.3:g.22593_22595delinsGAA , LRG_293:g.22593_22595delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1594_1596delinsGAA	ENSP00000434898.2:p.Glu532=
ENST00000528762.2:c.1594_1596delinsGAA	ENSP00000433168.2:p.Glu532=
ENST00000530893.7:c.1225_1227delinsGAA	ENSP00000499438.2:p.Glu409=
ENST00000665585.2:c.1594_1596delinsGAA	ENSP00000499570.2:p.Glu532=
ENST00000666593.2:c.1594_1596delinsGAA	ENSP00000499256.2:p.Glu532=
ENST00000700202.2:c.1594_1596delinsGAA	ENSP00000514856.2:p.Glu532=
ENST00000700201.1:c.*1373_*1375delinsGAA	ENSP00000514855.1:n.*1373_*1375delinsGAA
ENST00000380152.8:c.1594_1596delinsGAA MANE Select	ENSP00000369497.3:p.Glu532=
ENST00000544455.6:c.1594_1596delinsGAA	ENSP00000439902.1:p.Glu532=
ENST00000614259.2:c.1594_1596delinsGAA	ENSP00000506251.1:p.Glu532=
ENST00000680887.1:c.1594_1596delinsGAA	ENSP00000505508.1:p.Glu532=
ENST00000380152.7:c.1594_1596delinsGAA	ENSP00000369497.3:p.Glu532=
ENST00000530893.6:n.1792_1794delinsGAA
ENST00000544455.5:c.1594_1596delinsGAA	ENSP00000439902.1:p.Glu532=
ENST00000614259.1:n.1594_1596delinsGAA
NM_000059.3:c.1594_1596delinsGAA , LRG_293t1:c.1594_1596delinsGAA	NP_000050.2:p.Glu532=
XM_011535203.1:c.1594_1596delinsGAA	XP_011533505.1:p.Glu532=
XM_011535204.1:c.1594_1596delinsGAA	XP_011533506.1:p.Glu532=
XM_011535205.1:c.1594_1596delinsGAA	XP_011533507.1:p.Glu532=
NM_000059.4:c.1594_1596delinsGAA MANE Select	NP_000050.3:p.Glu532=