Canonical Allele Identifier: CA025847

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52689
• ClinVar RCV Id: RCV000496677 ; RCV000661392
• dbSNP Id: rs397508014
• MyVariant Identifiers: chr13:g.32953541del (hg19) ; chr13:g.32379404del (hg38)
• PubMed: PMID:10790213

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379404del , CM000675.2:g.32379404del	GRCh38
NC_000013.10:g.32953541del , CM000675.1:g.32953541del	GRCh37
NC_000013.9:g.31851541del	NCBI36
NG_012772.3:g.68925del , LRG_293:g.68925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8842del	ENSP00000434898.2:p.Ile2948LeufsTer28
ENST00000528762.2:c.*209del	ENSP00000433168.2:n.*209del
ENST00000530893.7:c.8473del	ENSP00000499438.2:p.Ile2825LeufsTer28
ENST00000665585.2:c.*404del	ENSP00000499570.2:n.*404del
ENST00000666593.2:c.8842del	ENSP00000499256.2:p.Ile2948LeufsTer28
ENST00000700202.2:c.8842del	ENSP00000514856.2:p.Ile2948LeufsTer28
ENST00000700202.1:c.1309del	ENSP00000514856.1:p.Ile437LeufsTer28
ENST00000700203.1:n.969del
ENST00000380152.8:c.8842del MANE Select	ENSP00000369497.3:p.Ile2948LeufsTer28
ENST00000544455.6:c.8842del	ENSP00000439902.1:p.Ile2948LeufsTer28
ENST00000614259.2:c.8850del	ENSP00000506251.1:n.8850del
ENST00000665585.1:c.1720del
ENST00000680887.1:c.8842del	ENSP00000505508.1:p.Ile2948LeufsTer28
ENST00000380152.7:c.8842del	ENSP00000369497.3:p.Ile2948LeufsTer28
ENST00000528762.1:c.404del	ENSP00000433168.1:n.404del
ENST00000544455.5:c.8842del	ENSP00000439902.1:p.Ile2948LeufsTer28
NM_000059.3:c.8842del , LRG_293t1:c.8842del	NP_000050.2:p.Ile2948LeufsTer28
XM_011535203.1:c.8842del	XP_011533505.1:p.Ile2948LeufsTer28
XM_011535204.1:c.8746del	XP_011533506.1:p.Ile2916LeufsTer28
XM_011535205.1:c.8755-346del	XP_011533507.1:n.8755-346del
NM_000059.4:c.8842del MANE Select	NP_000050.3:p.Ile2948LeufsTer28