Canonical Allele Identifier: CA1139663063

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 917654
• ClinVar RCV Id: RCV001174765
• dbSNP Id: rs1191198388

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326516del , CM000675.2:g.32326516del	GRCh38
NC_000013.10:g.32900653del , CM000675.1:g.32900653del	GRCh37
NC_000013.9:g.31798653del	NCBI36
NG_012772.3:g.16037del , LRG_293:g.16037del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.534del	ENSP00000434898.2:p.Lys178AsnfsTer7
ENST00000528762.2:c.534del	ENSP00000433168.2:p.Lys178AsnfsTer7
ENST00000530893.7:c.165del	ENSP00000499438.2:p.Lys55AsnfsTer7
ENST00000665585.2:c.534del	ENSP00000499570.2:p.Lys178AsnfsTer7
ENST00000666593.2:c.534del	ENSP00000499256.2:p.Lys178AsnfsTer7
ENST00000700202.2:c.534del	ENSP00000514856.2:p.Lys178AsnfsTer7
ENST00000700200.1:n.405del
ENST00000700201.1:c.*313del	ENSP00000514855.1:n.*313del
ENST00000380152.8:c.534del MANE Select	ENSP00000369497.3:p.Lys178AsnfsTer7
ENST00000544455.6:c.534del	ENSP00000439902.1:p.Lys178AsnfsTer7
ENST00000614259.2:c.534del	ENSP00000506251.1:p.Lys178AsnfsTer7
ENST00000680887.1:c.534del	ENSP00000505508.1:p.Lys178AsnfsTer7
ENST00000380152.7:c.534del	ENSP00000369497.3:p.Lys178AsnfsTer7
ENST00000530893.6:n.732del
ENST00000544455.5:c.534del	ENSP00000439902.1:p.Lys178AsnfsTer7
ENST00000614259.1:n.534del
NM_000059.3:c.534del , LRG_293t1:c.534del	NP_000050.2:p.Lys178AsnfsTer7
XM_011535203.1:c.534del	XP_011533505.1:p.Lys178AsnfsTer7
XM_011535204.1:c.534del	XP_011533506.1:p.Lys178AsnfsTer7
XM_011535205.1:c.534del	XP_011533507.1:p.Lys178AsnfsTer7
NM_000059.4:c.534del MANE Select	NP_000050.3:p.Lys178AsnfsTer7