Canonical Allele Identifier: CA2580087440

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2431338
• ClinVar RCV Id: RCV003140398

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376784_32376787del , CM000675.2:g.32376784_32376787del	GRCh38
NC_000013.10:g.32950921_32950924del , CM000675.1:g.32950921_32950924del	GRCh37
NC_000013.9:g.31848921_31848924del	NCBI36
NG_012772.3:g.66305_66308del , LRG_293:g.66305_66308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8747_8750del	ENSP00000434898.2:p.Tyr2916LeufsTer10
ENST00000528762.2:c.*114_*117del	ENSP00000433168.2:n.*114_*117del
ENST00000530893.7:c.8378_8381del	ENSP00000499438.2:p.Tyr2793LeufsTer10
ENST00000665585.2:c.*309_*312del	ENSP00000499570.2:n.*309_*312del
ENST00000666593.2:c.8747_8750del	ENSP00000499256.2:p.Tyr2916LeufsTer10
ENST00000700202.2:c.8747_8750del	ENSP00000514856.2:p.Tyr2916LeufsTer10
ENST00000700202.1:c.1214_1217del	ENSP00000514856.1:p.Tyr405LeufsTer10
ENST00000700203.1:n.874_877del
ENST00000380152.8:c.8747_8750del MANE Select	ENSP00000369497.3:p.Tyr2916LeufsTer10
ENST00000544455.6:c.8747_8750del	ENSP00000439902.1:p.Tyr2916LeufsTer10
ENST00000614259.2:c.8755_8758del	ENSP00000506251.1:n.8755_8758del
ENST00000665585.1:c.1625_1628del
ENST00000680887.1:c.8747_8750del	ENSP00000505508.1:p.Tyr2916LeufsTer10
ENST00000380152.7:c.8747_8750del	ENSP00000369497.3:p.Tyr2916LeufsTer10
ENST00000528762.1:c.309_312del	ENSP00000433168.1:n.309_312del
ENST00000544455.5:c.8747_8750del	ENSP00000439902.1:p.Tyr2916LeufsTer10
NM_000059.3:c.8747_8750del , LRG_293t1:c.8747_8750del	NP_000050.2:p.Tyr2916LeufsTer10
XM_011535203.1:c.8747_8750del	XP_011533505.1:p.Tyr2916LeufsTer10
XM_011535204.1:c.8651_8654del	XP_011533506.1:p.Tyr2884LeufsTer10
XM_011535205.1:c.8747_8750del	XP_011533507.1:p.Tyr2916LeufsTer?
NM_000059.4:c.8747_8750del MANE Select	NP_000050.3:p.Tyr2916LeufsTer10