Canonical Allele Identifier: CA023800

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52043
• ClinVar RCV Id: RCV000113557 ; RCV000573808
• dbSNP Id: rs80359571
• gnomAD v4: 13-32340623-CAT-C
• MyVariant Identifiers: chr13:g.32914762_32914763del (hg19) ; chr13:g.32340625_32340626del (hg38)
• PubMed: PMID:10227398

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340625_32340626del , CM000675.2:g.32340625_32340626del	GRCh38
NC_000013.10:g.32914762_32914763del , CM000675.1:g.32914762_32914763del	GRCh37
NC_000013.9:g.31812762_31812763del	NCBI36
NG_012772.3:g.30146_30147del , LRG_293:g.30146_30147del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.6270_6271del	ENSP00000434898.2:p.His2090GlnfsTer9
ENST00000528762.2:c.6270_6271del	ENSP00000433168.2:p.His2090GlnfsTer9
ENST00000530893.7:c.5901_5902del	ENSP00000499438.2:p.His1967GlnfsTer9
ENST00000665585.2:c.6270_6271del	ENSP00000499570.2:p.His2090GlnfsTer9
ENST00000666593.2:c.6270_6271del	ENSP00000499256.2:p.His2090GlnfsTer9
ENST00000700202.2:c.6270_6271del	ENSP00000514856.2:p.His2090GlnfsTer9
ENST00000380152.8:c.6270_6271del MANE Select	ENSP00000369497.3:p.His2090GlnfsTer9
ENST00000544455.6:c.6270_6271del	ENSP00000439902.1:p.His2090GlnfsTer9
ENST00000614259.2:c.6270_6271del	ENSP00000506251.1:p.His2090GlnfsTer9
ENST00000680887.1:c.6270_6271del	ENSP00000505508.1:p.His2090GlnfsTer9
ENST00000380152.7:c.6270_6271del	ENSP00000369497.3:p.His2090GlnfsTer9
ENST00000544455.5:c.6270_6271del	ENSP00000439902.1:p.His2090GlnfsTer9
ENST00000614259.1:n.6270_6271del
NM_000059.3:c.6270_6271del , LRG_293t1:c.6270_6271del	NP_000050.2:p.His2090GlnfsTer9
XM_011535203.1:c.6270_6271del	XP_011533505.1:p.His2090GlnfsTer9
XM_011535204.1:c.6270_6271del	XP_011533506.1:p.His2090GlnfsTer9
XM_011535205.1:c.6270_6271del	XP_011533507.1:p.His2090GlnfsTer9
NM_000059.4:c.6270_6271del MANE Select	NP_000050.3:p.His2090GlnfsTer9