Canonical Allele Identifier: CA1139663174

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 944044
• ClinVar RCV Id: RCV001214358
• dbSNP Id: rs2072831157

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371097del , CM000675.2:g.32371097del	GRCh38
NC_000013.10:g.32945234del , CM000675.1:g.32945234del	GRCh37
NC_000013.9:g.31843234del	NCBI36
NG_012772.3:g.60618del , LRG_293:g.60618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8629del	ENSP00000434898.2:p.Glu2877LysfsTer14
ENST00000528762.2:c.8629del	ENSP00000433168.2:p.Glu2877LysfsTer9
ENST00000530893.7:c.8260del	ENSP00000499438.2:p.Glu2754LysfsTer14
ENST00000665585.2:c.8629del	ENSP00000499570.2:p.Glu2877LysfsTer15
ENST00000666593.2:c.8629del	ENSP00000499256.2:p.Glu2877LysfsTer14
ENST00000700202.2:c.8629del	ENSP00000514856.2:p.Glu2877LysfsTer14
ENST00000700202.1:c.1096del	ENSP00000514856.1:p.Glu366LysfsTer14
ENST00000380152.8:c.8629del MANE Select	ENSP00000369497.3:p.Glu2877LysfsTer14
ENST00000544455.6:c.8629del	ENSP00000439902.1:p.Glu2877LysfsTer14
ENST00000614259.2:c.8637del	ENSP00000506251.1:n.8637del
ENST00000665585.1:c.1194del
ENST00000680887.1:c.8629del	ENSP00000505508.1:p.Glu2877LysfsTer14
ENST00000380152.7:c.8629del	ENSP00000369497.3:p.Glu2877LysfsTer14
ENST00000528762.1:c.127del	ENSP00000433168.1:p.Glu43LysfsTer9
ENST00000544455.5:c.8629del	ENSP00000439902.1:p.Glu2877LysfsTer14
NM_000059.3:c.8629del , LRG_293t1:c.8629del	NP_000050.2:p.Glu2877LysfsTer14
XM_011535203.1:c.8629del	XP_011533505.1:p.Glu2877LysfsTer14
XM_011535204.1:c.8533del	XP_011533506.1:p.Glu2845LysfsTer14
XM_011535205.1:c.8629del	XP_011533507.1:p.Glu2877LysfsTer14
NM_000059.4:c.8629del MANE Select	NP_000050.3:p.Glu2877LysfsTer14