Canonical Allele Identifier: CA025661

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52597
• ClinVar RCV Id: RCV000113939 ; RCV000166065 ; RCV001383607
• dbSNP Id: rs80359711
• MyVariant Identifiers: chr13:g.32944681del (hg19) ; chr13:g.32370544del (hg38)
• PubMed: PMID:9150154

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370544del , CM000675.2:g.32370544del	GRCh38
NC_000013.10:g.32944681del , CM000675.1:g.32944681del	GRCh37
NC_000013.9:g.31842681del	NCBI36
NG_012772.3:g.60065del , LRG_293:g.60065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8474del	ENSP00000434898.2:p.Ala2825AspfsTer?
ENST00000528762.2:c.8474del	ENSP00000433168.2:p.Ala2825AspfsTer?
ENST00000530893.7:c.8105del	ENSP00000499438.2:p.Ala2702AspfsTer?
ENST00000665585.2:c.8474del	ENSP00000499570.2:p.Ala2825AspfsTer?
ENST00000666593.2:c.8474del	ENSP00000499256.2:p.Ala2825AspfsTer?
ENST00000700202.2:c.8474del	ENSP00000514856.2:p.Ala2825AspfsTer?
ENST00000700202.1:c.941del	ENSP00000514856.1:p.Ala314AspfsTer?
ENST00000380152.8:c.8474del MANE Select	ENSP00000369497.3:p.Ala2825AspfsTer?
ENST00000544455.6:c.8474del	ENSP00000439902.1:p.Ala2825AspfsTer?
ENST00000614259.2:c.8482del	ENSP00000506251.1:n.8482del
ENST00000665585.1:c.1039del
ENST00000680887.1:c.8474del	ENSP00000505508.1:p.Ala2825AspfsTer?
ENST00000380152.7:c.8474del	ENSP00000369497.3:p.Ala2825AspfsTer?
ENST00000544455.5:c.8474del	ENSP00000439902.1:p.Ala2825AspfsTer?
NM_000059.3:c.8474del , LRG_293t1:c.8474del	NP_000050.2:p.Ala2825AspfsTer?
XM_011535203.1:c.8474del	XP_011533505.1:p.Ala2825AspfsTer?
XM_011535204.1:c.8378del	XP_011533506.1:p.Ala2793AspfsTer?
XM_011535205.1:c.8474del	XP_011533507.1:p.Ala2825AspfsTer?
NM_000059.4:c.8474del MANE Select	NP_000050.3:p.Ala2825AspfsTer?