Canonical Allele Identifier: CA10589517

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267107
• ClinVar RCV Id: RCV000256826
• dbSNP Id: rs886040792
• MyVariant Identifiers: chr13:g.32953497_32953501del (hg19) ; chr13:g.32379360_32379364del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379360_32379364del , CM000675.2:g.32379360_32379364del	GRCh38
NC_000013.10:g.32953497_32953501del , CM000675.1:g.32953497_32953501del	GRCh37
NC_000013.9:g.31851497_31851501del	NCBI36
NG_012772.3:g.68881_68885del , LRG_293:g.68881_68885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8798_8802del	ENSP00000434898.2:p.Arg2933AsnfsTer4
ENST00000528762.2:c.*165_*169del	ENSP00000433168.2:n.*165_*169del
ENST00000530893.7:c.8429_8433del	ENSP00000499438.2:p.Arg2810AsnfsTer4
ENST00000665585.2:c.*360_*364del	ENSP00000499570.2:n.*360_*364del
ENST00000666593.2:c.8798_8802del	ENSP00000499256.2:p.Arg2933AsnfsTer4
ENST00000700202.2:c.8798_8802del	ENSP00000514856.2:p.Arg2933AsnfsTer4
ENST00000700202.1:c.1265_1269del	ENSP00000514856.1:p.Arg422AsnfsTer4
ENST00000700203.1:n.925_929del
ENST00000380152.8:c.8798_8802del MANE Select	ENSP00000369497.3:p.Arg2933AsnfsTer4
ENST00000544455.6:c.8798_8802del	ENSP00000439902.1:p.Arg2933AsnfsTer4
ENST00000614259.2:c.8806_8810del	ENSP00000506251.1:n.8806_8810del
ENST00000665585.1:c.1676_1680del
ENST00000680887.1:c.8798_8802del	ENSP00000505508.1:p.Arg2933AsnfsTer4
ENST00000380152.7:c.8798_8802del	ENSP00000369497.3:p.Arg2933AsnfsTer4
ENST00000528762.1:c.360_364del	ENSP00000433168.1:n.360_364del
ENST00000544455.5:c.8798_8802del	ENSP00000439902.1:p.Arg2933AsnfsTer4
NM_000059.3:c.8798_8802del , LRG_293t1:c.8798_8802del	NP_000050.2:p.Arg2933AsnfsTer4
XM_011535203.1:c.8798_8802del	XP_011533505.1:p.Arg2933AsnfsTer4
XM_011535204.1:c.8702_8706del	XP_011533506.1:p.Arg2901AsnfsTer4
XM_011535205.1:c.8755-390_8755-386del	XP_011533507.1:n.8755-390_8755-386del
NM_000059.4:c.8798_8802del MANE Select	NP_000050.3:p.Arg2933AsnfsTer4