Canonical Allele Identifier: CA2082783752

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319229_32319230delinsCT , CM000675.2:g.32319229_32319230delinsCT	GRCh38
NC_000013.10:g.32893366_32893367delinsCT , CM000675.1:g.32893366_32893367delinsCT	GRCh37
NC_000013.9:g.31791366_31791367delinsCT	NCBI36
NG_012772.3:g.8750_8751delinsCT , LRG_293:g.8750_8751delinsCT
NG_017006.2:g.1134_1135delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.220_221delinsCT	ENSP00000434898.2:p.Leu74=
ENST00000528762.2:c.220_221delinsCT	ENSP00000433168.2:p.Leu74=
ENST00000530893.7:c.-150_-149delinsCT	ENSP00000499438.2:n.-150_-149delinsCT
ENST00000665585.2:c.220_221delinsCT	ENSP00000499570.2:p.Leu74=
ENST00000666593.2:c.220_221delinsCT	ENSP00000499256.2:p.Leu74=
ENST00000700202.2:c.220_221delinsCT	ENSP00000514856.2:p.Leu74=
ENST00000700200.1:n.191+2702_191+2703delinsCT
ENST00000700201.1:c.220_221delinsCT	ENSP00000514855.1:p.Leu74=
ENST00000380152.8:c.220_221delinsCT MANE Select	ENSP00000369497.3:p.Leu74=
ENST00000544455.6:c.220_221delinsCT	ENSP00000439902.1:p.Leu74=
ENST00000614259.2:c.220_221delinsCT	ENSP00000506251.1:p.Leu74=
ENST00000680887.1:c.220_221delinsCT	ENSP00000505508.1:p.Leu74=
ENST00000380152.7:c.220_221delinsCT	ENSP00000369497.3:p.Leu74=
ENST00000530893.6:n.418_419delinsCT
ENST00000544455.5:c.220_221delinsCT	ENSP00000439902.1:p.Leu74=
ENST00000614259.1:n.220_221delinsCT
NM_000059.3:c.220_221delinsCT , LRG_293t1:c.220_221delinsCT	NP_000050.2:p.Leu74=
XM_011535203.1:c.220_221delinsCT	XP_011533505.1:p.Leu74=
XM_011535204.1:c.220_221delinsCT	XP_011533506.1:p.Leu74=
XM_011535205.1:c.220_221delinsCT	XP_011533507.1:p.Leu74=
NM_000059.4:c.220_221delinsCT MANE Select	NP_000050.3:p.Leu74=