Canonical Allele Identifier: CA2573149341

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1456513
• ClinVar RCV Id: RCV001946897 ; RCV002352651
• dbSNP Id: rs2137468157

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32332634_32332637del , CM000675.2:g.32332634_32332637del	GRCh38
NC_000013.10:g.32906771_32906774del , CM000675.1:g.32906771_32906774del	GRCh37
NC_000013.9:g.31804771_31804774del	NCBI36
NG_012772.3:g.22155_22158del , LRG_293:g.22155_22158del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.1156_1159del	ENSP00000434898.2:p.Glu386LeufsTer12
ENST00000528762.2:c.1156_1159del	ENSP00000433168.2:p.Glu386LeufsTer12
ENST00000530893.7:c.787_790del	ENSP00000499438.2:p.Glu263LeufsTer12
ENST00000665585.2:c.1156_1159del	ENSP00000499570.2:p.Glu386LeufsTer12
ENST00000666593.2:c.1156_1159del	ENSP00000499256.2:p.Glu386LeufsTer12
ENST00000700202.2:c.1156_1159del	ENSP00000514856.2:p.Glu386LeufsTer12
ENST00000700201.1:c.*935_*938del	ENSP00000514855.1:n.*935_*938del
ENST00000380152.8:c.1156_1159del MANE Select	ENSP00000369497.3:p.Glu386LeufsTer12
ENST00000544455.6:c.1156_1159del	ENSP00000439902.1:p.Glu386LeufsTer12
ENST00000614259.2:c.1156_1159del	ENSP00000506251.1:p.Glu386LeufsTer12
ENST00000680887.1:c.1156_1159del	ENSP00000505508.1:p.Glu386LeufsTer12
ENST00000380152.7:c.1156_1159del	ENSP00000369497.3:p.Glu386LeufsTer12
ENST00000530893.6:n.1354_1357del
ENST00000544455.5:c.1156_1159del	ENSP00000439902.1:p.Glu386LeufsTer12
ENST00000614259.1:n.1156_1159del
NM_000059.3:c.1156_1159del , LRG_293t1:c.1156_1159del	NP_000050.2:p.Glu386LeufsTer12
XM_011535203.1:c.1156_1159del	XP_011533505.1:p.Glu386LeufsTer12
XM_011535204.1:c.1156_1159del	XP_011533506.1:p.Glu386LeufsTer12
XM_011535205.1:c.1156_1159del	XP_011533507.1:p.Glu386LeufsTer12
NM_000059.4:c.1156_1159del MANE Select	NP_000050.3:p.Glu386LeufsTer12