Canonical Allele Identifier: CA2082837434

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379750_32379752delinsTTA , CM000675.2:g.32379750_32379752delinsTTA	GRCh38
NC_000013.10:g.32953887_32953889delinsTTA , CM000675.1:g.32953887_32953889delinsTTA	GRCh37
NC_000013.9:g.31851887_31851889delinsTTA	NCBI36
NG_012772.3:g.69271_69273delinsTTA , LRG_293:g.69271_69273delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8954_8956delinsTTA	ENSP00000434898.2:p.Val2985=
ENST00000528762.2:c.*321_*323delinsTTA	ENSP00000433168.2:n.*321_*323delinsTTA
ENST00000530893.7:c.8585_8587delinsTTA	ENSP00000499438.2:p.Val2862=
ENST00000665585.2:c.*516_*518delinsTTA	ENSP00000499570.2:n.*516_*518delinsTTA
ENST00000666593.2:c.8954_8956delinsTTA	ENSP00000499256.2:p.Val2985=
ENST00000700202.2:c.8954-51_8954-49delinsTTA	ENSP00000514856.2:n.8954-51_8954-49delinsTTA
ENST00000700202.1:c.1421-51_1421-49delinsTTA	ENSP00000514856.1:n.1421-51_1421-49delinsTTA
ENST00000700203.1:n.1081_1083delinsTTA
ENST00000380152.8:c.8954_8956delinsTTA MANE Select	ENSP00000369497.3:p.Val2985=
ENST00000544455.6:c.8954_8956delinsTTA	ENSP00000439902.1:p.Val2985=
ENST00000614259.2:c.8962_8964delinsTTA	ENSP00000506251.1:n.8962_8964delinsTTA
ENST00000665585.1:c.1832_1834delinsTTA
ENST00000680887.1:c.8954_8956delinsTTA	ENSP00000505508.1:p.Val2985=
ENST00000380152.7:c.8954_8956delinsTTA	ENSP00000369497.3:p.Val2985=
ENST00000544455.5:c.8954_8956delinsTTA	ENSP00000439902.1:p.Val2985=
NM_000059.3:c.8954_8956delinsTTA , LRG_293t1:c.8954_8956delinsTTA	NP_000050.2:p.Val2985=
XM_011535203.1:c.8954_8956delinsTTA	XP_011533505.1:p.Val2985=
XM_011535204.1:c.8858_8860delinsTTA	XP_011533506.1:p.Val2953=
XM_011535205.1:c.8755_8757delinsTTA	XP_011533507.1:p.Leu2919=
NM_000059.4:c.8954_8956delinsTTA MANE Select	NP_000050.3:p.Val2985=