Canonical Allele Identifier: CA2825002162

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 3148729
• ClinVar RCV Id: RCV004442623

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379491del , CM000675.2:g.32379491del	GRCh38
NC_000013.10:g.32953628del , CM000675.1:g.32953628del	GRCh37
NC_000013.9:g.31851628del	NCBI36
NG_012772.3:g.69012del , LRG_293:g.69012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8929del	ENSP00000434898.2:p.Tyr2977IlefsTer11
ENST00000528762.2:c.*296del	ENSP00000433168.2:n.*296del
ENST00000530893.7:c.8560del	ENSP00000499438.2:p.Tyr2854IlefsTer11
ENST00000665585.2:c.*491del	ENSP00000499570.2:n.*491del
ENST00000666593.2:c.8929del	ENSP00000499256.2:p.Tyr2977IlefsTer11
ENST00000700202.2:c.8929del	ENSP00000514856.2:p.Tyr2977IlefsTer?
ENST00000700202.1:c.1396del	ENSP00000514856.1:p.Tyr466IlefsTer?
ENST00000700203.1:n.1056del
ENST00000380152.8:c.8929del MANE Select	ENSP00000369497.3:p.Tyr2977IlefsTer11
ENST00000544455.6:c.8929del	ENSP00000439902.1:p.Tyr2977IlefsTer11
ENST00000614259.2:c.8937del	ENSP00000506251.1:n.8937del
ENST00000665585.1:c.1807del
ENST00000680887.1:c.8929del	ENSP00000505508.1:p.Tyr2977IlefsTer11
ENST00000380152.7:c.8929del	ENSP00000369497.3:p.Tyr2977IlefsTer11
ENST00000528762.1:c.491del	ENSP00000433168.1:n.491del
ENST00000544455.5:c.8929del	ENSP00000439902.1:p.Tyr2977IlefsTer11
NM_000059.3:c.8929del , LRG_293t1:c.8929del	NP_000050.2:p.Tyr2977IlefsTer11
XM_011535203.1:c.8929del	XP_011533505.1:p.Tyr2977IlefsTer11
XM_011535204.1:c.8833del	XP_011533506.1:p.Tyr2945IlefsTer11
XM_011535205.1:c.8755-259del	XP_011533507.1:n.8755-259del
NM_000059.4:c.8929del MANE Select	NP_000050.3:p.Tyr2977IlefsTer11