Canonical Allele Identifier: CA10575936

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 224449
• ClinVar RCV Id: RCV000240733 ; RCV000661790
• dbSNP Id: rs886037805
• MyVariant Identifiers: chr13:g.32972403del (hg19) ; chr13:g.32398266del (hg38)
• PubMed: PMID:27257965

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398266del , CM000675.2:g.32398266del	GRCh38
NC_000013.10:g.32972403del , CM000675.1:g.32972403del	GRCh37
NC_000013.9:g.31870403del	NCBI36
NG_012772.3:g.87787del , LRG_293:g.87787del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*276del	ENSP00000434898.2:n.*276del
ENST00000528762.2:c.*1120del	ENSP00000433168.2:n.*1120del
ENST00000530893.7:c.9384del	ENSP00000499438.2:p.Lys3128AsnfsTer24
ENST00000665585.2:c.*1315del	ENSP00000499570.2:n.*1315del
ENST00000700202.2:c.9702del	ENSP00000514856.2:p.Lys3234AsnfsTer24
ENST00000700202.1:c.2169del	ENSP00000514856.1:p.Lys723AsnfsTer24
ENST00000700203.1:n.1880del
ENST00000380152.8:c.9753del MANE Select	ENSP00000369497.3:p.Lys3251AsnfsTer24
ENST00000544455.6:c.9753del	ENSP00000439902.1:p.Lys3251AsnfsTer24
ENST00000614259.2:c.9761del	ENSP00000506251.1:n.9761del
ENST00000680887.1:c.9753del	ENSP00000505508.1:p.Lys3251AsnfsTer24
ENST00000380152.7:c.9753del	ENSP00000369497.3:p.Lys3251AsnfsTer24
ENST00000470094.1:c.836del
ENST00000533776.1:n.341del
ENST00000544455.5:c.9753del	ENSP00000439902.1:p.Lys3251AsnfsTer24
NM_000059.3:c.9753del , LRG_293t1:c.9753del	NP_000050.2:p.Lys3251AsnfsTer24
XM_011535203.1:c.9753del	XP_011533505.1:p.Lys3251AsnfsTer24
XM_011535204.1:c.9657del	XP_011533506.1:p.Lys3219AsnfsTer24
NM_000059.4:c.9753del MANE Select	NP_000050.3:p.Lys3251AsnfsTer24