Canonical Allele Identifier: CA16619790

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 422546
• ClinVar RCV Id: RCV000485937 ; RCV000661750
• dbSNP Id: rs1064795851
• MyVariant Identifiers: chr13:g.32968894del (hg19) ; chr13:g.32394757del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394757del , CM000675.2:g.32394757del	GRCh38
NC_000013.10:g.32968894del , CM000675.1:g.32968894del	GRCh37
NC_000013.9:g.31866894del	NCBI36
NG_012772.3:g.84278del , LRG_293:g.84278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9325del	ENSP00000434898.2:p.Asn3110MetfsTer10
ENST00000528762.2:c.*692del	ENSP00000433168.2:n.*692del
ENST00000530893.7:c.8956del	ENSP00000499438.2:p.Asn2987MetfsTer10
ENST00000665585.2:c.*887del	ENSP00000499570.2:n.*887del
ENST00000666593.2:c.*170del	ENSP00000499256.2:n.*170del
ENST00000700202.2:c.9274del	ENSP00000514856.2:p.Asn3093MetfsTer10
ENST00000700202.1:c.1741del	ENSP00000514856.1:p.Asn582MetfsTer10
ENST00000700203.1:n.1452del
ENST00000380152.8:c.9325del MANE Select	ENSP00000369497.3:p.Asn3110MetfsTer10
ENST00000544455.6:c.9325del	ENSP00000439902.1:p.Asn3110MetfsTer10
ENST00000614259.2:c.9333del	ENSP00000506251.1:n.9333del
ENST00000665585.1:c.2203del
ENST00000666593.1:c.347del	ENSP00000499256.1:n.347del
ENST00000680887.1:c.9325del	ENSP00000505508.1:p.Asn3110MetfsTer10
ENST00000380152.7:c.9325del	ENSP00000369497.3:p.Asn3110MetfsTer10
ENST00000470094.1:c.282del
ENST00000544455.5:c.9325del	ENSP00000439902.1:p.Asn3110MetfsTer10
NM_000059.3:c.9325del , LRG_293t1:c.9325del	NP_000050.2:p.Asn3110MetfsTer10
XM_011535203.1:c.9325del	XP_011533505.1:p.Asn3110MetfsTer10
XM_011535204.1:c.9229del	XP_011533506.1:p.Asn3078MetfsTer10
NM_000059.4:c.9325del MANE Select	NP_000050.3:p.Asn3110MetfsTer10