Canonical Allele Identifier: CA2082836510

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379485_32379486delinsGT , CM000675.2:g.32379485_32379486delinsGT	GRCh38
NC_000013.10:g.32953622_32953623delinsGT , CM000675.1:g.32953622_32953623delinsGT	GRCh37
NC_000013.9:g.31851622_31851623delinsGT	NCBI36
NG_012772.3:g.69006_69007delinsGT , LRG_293:g.69006_69007delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8923_8924delinsGT	ENSP00000434898.2:p.Val2975=
ENST00000528762.2:c.*290_*291delinsGT	ENSP00000433168.2:n.*290_*291delinsGT
ENST00000530893.7:c.8554_8555delinsGT	ENSP00000499438.2:p.Val2852=
ENST00000665585.2:c.*485_*486delinsGT	ENSP00000499570.2:n.*485_*486delinsGT
ENST00000666593.2:c.8923_8924delinsGT	ENSP00000499256.2:p.Val2975=
ENST00000700202.2:c.8923_8924delinsGT	ENSP00000514856.2:p.Val2975=
ENST00000700202.1:c.1390_1391delinsGT	ENSP00000514856.1:p.Val464=
ENST00000700203.1:n.1050_1051delinsGT
ENST00000380152.8:c.8923_8924delinsGT MANE Select	ENSP00000369497.3:p.Val2975=
ENST00000544455.6:c.8923_8924delinsGT	ENSP00000439902.1:p.Val2975=
ENST00000614259.2:c.8931_8932delinsGT	ENSP00000506251.1:n.8931_8932delinsGT
ENST00000665585.1:c.1801_1802delinsGT
ENST00000680887.1:c.8923_8924delinsGT	ENSP00000505508.1:p.Val2975=
ENST00000380152.7:c.8923_8924delinsGT	ENSP00000369497.3:p.Val2975=
ENST00000528762.1:c.485_486delinsGT	ENSP00000433168.1:n.485_486delinsGT
ENST00000544455.5:c.8923_8924delinsGT	ENSP00000439902.1:p.Val2975=
NM_000059.3:c.8923_8924delinsGT , LRG_293t1:c.8923_8924delinsGT	NP_000050.2:p.Val2975=
XM_011535203.1:c.8923_8924delinsGT	XP_011533505.1:p.Val2975=
XM_011535204.1:c.8827_8828delinsGT	XP_011533506.1:p.Val2943=
XM_011535205.1:c.8755-265_8755-264delinsGT	XP_011533507.1:n.8755-265_8755-264delinsGT
NM_000059.4:c.8923_8924delinsGT MANE Select	NP_000050.3:p.Val2975=