Canonical Allele Identifier: CA658798110

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 518257
• ClinVar RCV Id: RCV000606540 ; RCV001409241
• dbSNP Id: rs1466234699
• gnomAD v4: 13-32398696-GA-G
• MyVariant Identifiers: chr13:g.32972834del (hg19) ; chr13:g.32398697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398697del , CM000675.2:g.32398697del	GRCh38
NC_000013.10:g.32972834del , CM000675.1:g.32972834del	GRCh37
NC_000013.9:g.31870834del	NCBI36
NG_012772.3:g.88218del , LRG_293:g.88218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*707del	ENSP00000434898.2:n.*707del
ENST00000528762.2:c.*1551del	ENSP00000433168.2:n.*1551del
ENST00000530893.7:c.9815del	ENSP00000499438.2:p.Glu3272GlyfsTer?
ENST00000665585.2:c.*1746del	ENSP00000499570.2:n.*1746del
ENST00000700202.2:c.10133del	ENSP00000514856.2:p.Glu3378GlyfsTer?
ENST00000700202.1:c.2600del	ENSP00000514856.1:p.Glu867GlyfsTer?
ENST00000700203.1:n.2311del
ENST00000380152.8:c.10184del MANE Select	ENSP00000369497.3:p.Glu3395GlyfsTer?
ENST00000544455.6:c.10184del	ENSP00000439902.1:p.Glu3395GlyfsTer?
ENST00000614259.2:c.10192del	ENSP00000506251.1:n.10192del
ENST00000680887.1:c.10184del	ENSP00000505508.1:p.Glu3395GlyfsTer?
ENST00000380152.7:c.10184del	ENSP00000369497.3:p.Glu3395GlyfsTer?
ENST00000544455.5:c.10184del	ENSP00000439902.1:p.Glu3395GlyfsTer?
NM_000059.3:c.10184del , LRG_293t1:c.10184del	NP_000050.2:p.Glu3395GlyfsTer?
XM_011535203.1:c.10184del	XP_011533505.1:p.Glu3395GlyfsTer?
XM_011535204.1:c.10088del	XP_011533506.1:p.Glu3363GlyfsTer?
NM_000059.4:c.10184del MANE Select	NP_000050.3:p.Glu3395GlyfsTer?