Canonical Allele Identifier: CA10586596

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 254632
• ClinVar RCV Id: RCV000241161
• dbSNP Id: rs886038191
• MyVariant Identifiers: chr13:g.32968864_32968870del (hg19) ; chr13:g.32394727_32394733del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394727_32394733del , CM000675.2:g.32394727_32394733del	GRCh38
NC_000013.10:g.32968864_32968870del , CM000675.1:g.32968864_32968870del	GRCh37
NC_000013.9:g.31866864_31866870del	NCBI36
NG_012772.3:g.84248_84254del , LRG_293:g.84248_84254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9295_9301del	ENSP00000434898.2:p.Asn3099TrpfsTer3
ENST00000528762.2:c.*662_*668del	ENSP00000433168.2:n.*662_*668del
ENST00000530893.7:c.8926_8932del	ENSP00000499438.2:p.Asn2976TrpfsTer3
ENST00000665585.2:c.*857_*863del	ENSP00000499570.2:n.*857_*863del
ENST00000666593.2:c.*140_*146del	ENSP00000499256.2:n.*140_*146del
ENST00000700202.2:c.9244_9250del	ENSP00000514856.2:p.Asn3082TrpfsTer3
ENST00000700202.1:c.1711_1717del	ENSP00000514856.1:p.Asn571TrpfsTer3
ENST00000700203.1:n.1422_1428del
ENST00000380152.8:c.9295_9301del MANE Select	ENSP00000369497.3:p.Asn3099TrpfsTer3
ENST00000544455.6:c.9295_9301del	ENSP00000439902.1:p.Asn3099TrpfsTer3
ENST00000614259.2:c.9303_9309del	ENSP00000506251.1:n.9303_9309del
ENST00000665585.1:c.2173_2179del
ENST00000666593.1:c.317_323del	ENSP00000499256.1:n.317_323del
ENST00000680887.1:c.9295_9301del	ENSP00000505508.1:p.Asn3099TrpfsTer3
ENST00000380152.7:c.9295_9301del	ENSP00000369497.3:p.Asn3099TrpfsTer3
ENST00000470094.1:c.252_258del
ENST00000544455.5:c.9295_9301del	ENSP00000439902.1:p.Asn3099TrpfsTer3
NM_000059.3:c.9295_9301del , LRG_293t1:c.9295_9301del	NP_000050.2:p.Asn3099TrpfsTer3
XM_011535203.1:c.9295_9301del	XP_011533505.1:p.Asn3099TrpfsTer3
XM_011535204.1:c.9199_9205del	XP_011533506.1:p.Asn3067TrpfsTer3
NM_000059.4:c.9295_9301del MANE Select	NP_000050.3:p.Asn3099TrpfsTer3