Canonical Allele Identifier: CA025590

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52556
• ClinVar RCV Id: RCV000077434 ; RCV000162939 ; RCV000480653 ; RCV000496829
• dbSNP Id: rs80359707
• MyVariant Identifiers: chr13:g.32944547_32944550del (hg19) ; chr13:g.32370410_32370413del (hg38)
• PubMed: PMID:17148771 ; PMID:21324516 ; PMID:21913181

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370410_32370413del , CM000675.2:g.32370410_32370413del	GRCh38
NC_000013.10:g.32944547_32944550del , CM000675.1:g.32944547_32944550del	GRCh37
NC_000013.9:g.31842547_31842550del	NCBI36
NG_012772.3:g.59931_59934del , LRG_293:g.59931_59934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8340_8343del	ENSP00000434898.2:p.Asn2781ValfsTer?
ENST00000528762.2:c.8340_8343del	ENSP00000433168.2:p.Asn2781ValfsTer?
ENST00000530893.7:c.7971_7974del	ENSP00000499438.2:p.Asn2658ValfsTer?
ENST00000665585.2:c.8340_8343del	ENSP00000499570.2:p.Asn2781ValfsTer?
ENST00000666593.2:c.8340_8343del	ENSP00000499256.2:p.Asn2781ValfsTer?
ENST00000700202.2:c.8340_8343del	ENSP00000514856.2:p.Asn2781ValfsTer?
ENST00000700202.1:c.807_810del	ENSP00000514856.1:p.Asn270ValfsTer?
ENST00000380152.8:c.8340_8343del MANE Select	ENSP00000369497.3:p.Asn2781ValfsTer?
ENST00000544455.6:c.8340_8343del	ENSP00000439902.1:p.Asn2781ValfsTer?
ENST00000614259.2:c.8348_8351del	ENSP00000506251.1:n.8348_8351del
ENST00000665585.1:c.905_908del
ENST00000680887.1:c.8340_8343del	ENSP00000505508.1:p.Asn2781ValfsTer?
ENST00000380152.7:c.8340_8343del	ENSP00000369497.3:p.Asn2781ValfsTer?
ENST00000544455.5:c.8340_8343del	ENSP00000439902.1:p.Asn2781ValfsTer?
NM_000059.3:c.8340_8343del , LRG_293t1:c.8340_8343del	NP_000050.2:p.Asn2781ValfsTer?
XM_011535203.1:c.8340_8343del	XP_011533505.1:p.Asn2781ValfsTer?
XM_011535204.1:c.8244_8247del	XP_011533506.1:p.Asn2749ValfsTer?
XM_011535205.1:c.8340_8343del	XP_011533507.1:p.Asn2781ValfsTer?
NM_000059.4:c.8340_8343del MANE Select	NP_000050.3:p.Asn2781ValfsTer?