Canonical Allele Identifier: CA2082759646

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32331009_32331011delinsCAA , CM000675.2:g.32331009_32331011delinsCAA	GRCh38
NC_000013.10:g.32905146_32905148delinsCAA , CM000675.1:g.32905146_32905148delinsCAA	GRCh37
NC_000013.9:g.31803146_31803148delinsCAA	NCBI36
NG_012772.3:g.20530_20532delinsCAA , LRG_293:g.20530_20532delinsCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.772_774delinsCAA	ENSP00000434898.2:p.Gln258=
ENST00000528762.2:c.772_774delinsCAA	ENSP00000433168.2:p.Gln258=
ENST00000530893.7:c.403_405delinsCAA	ENSP00000499438.2:p.Gln135=
ENST00000665585.2:c.772_774delinsCAA	ENSP00000499570.2:p.Gln258=
ENST00000666593.2:c.772_774delinsCAA	ENSP00000499256.2:p.Gln258=
ENST00000700202.2:c.772_774delinsCAA	ENSP00000514856.2:p.Gln258=
ENST00000700201.1:c.*551_*553delinsCAA	ENSP00000514855.1:n.*551_*553delinsCAA
ENST00000380152.8:c.772_774delinsCAA MANE Select	ENSP00000369497.3:p.Gln258=
ENST00000544455.6:c.772_774delinsCAA	ENSP00000439902.1:p.Gln258=
ENST00000614259.2:c.772_774delinsCAA	ENSP00000506251.1:p.Gln258=
ENST00000680887.1:c.772_774delinsCAA	ENSP00000505508.1:p.Gln258=
ENST00000380152.7:c.772_774delinsCAA	ENSP00000369497.3:p.Gln258=
ENST00000530893.6:n.970_972delinsCAA
ENST00000544455.5:c.772_774delinsCAA	ENSP00000439902.1:p.Gln258=
ENST00000614259.1:n.772_774delinsCAA
NM_000059.3:c.772_774delinsCAA , LRG_293t1:c.772_774delinsCAA	NP_000050.2:p.Gln258=
XM_011535203.1:c.772_774delinsCAA	XP_011533505.1:p.Gln258=
XM_011535204.1:c.772_774delinsCAA	XP_011533506.1:p.Gln258=
XM_011535205.1:c.772_774delinsCAA	XP_011533507.1:p.Gln258=
NM_000059.4:c.772_774delinsCAA MANE Select	NP_000050.3:p.Gln258=