Canonical Allele Identifier: CA10589488

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267076
• ClinVar RCV Id: RCV000257128
• dbSNP Id: rs886040765
• MyVariant Identifiers: chr13:g.32944569_32944570del (hg19) ; chr13:g.32370432_32370433del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370432_32370433del , CM000675.2:g.32370432_32370433del	GRCh38
NC_000013.10:g.32944569_32944570del , CM000675.1:g.32944569_32944570del	GRCh37
NC_000013.9:g.31842569_31842570del	NCBI36
NG_012772.3:g.59953_59954del , LRG_293:g.59953_59954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8362_8363del	ENSP00000434898.2:p.Trp2788ValfsTer9
ENST00000528762.2:c.8362_8363del	ENSP00000433168.2:p.Trp2788ValfsTer9
ENST00000530893.7:c.7993_7994del	ENSP00000499438.2:p.Trp2665ValfsTer9
ENST00000665585.2:c.8362_8363del	ENSP00000499570.2:p.Trp2788ValfsTer9
ENST00000666593.2:c.8362_8363del	ENSP00000499256.2:p.Trp2788ValfsTer9
ENST00000700202.2:c.8362_8363del	ENSP00000514856.2:p.Trp2788ValfsTer9
ENST00000700202.1:c.829_830del	ENSP00000514856.1:p.Trp277ValfsTer9
ENST00000380152.8:c.8362_8363del MANE Select	ENSP00000369497.3:p.Trp2788ValfsTer9
ENST00000544455.6:c.8362_8363del	ENSP00000439902.1:p.Trp2788ValfsTer9
ENST00000614259.2:c.8370_8371del	ENSP00000506251.1:n.8370_8371del
ENST00000665585.1:c.927_928del
ENST00000680887.1:c.8362_8363del	ENSP00000505508.1:p.Trp2788ValfsTer9
ENST00000380152.7:c.8362_8363del	ENSP00000369497.3:p.Trp2788ValfsTer9
ENST00000544455.5:c.8362_8363del	ENSP00000439902.1:p.Trp2788ValfsTer9
NM_000059.3:c.8362_8363del , LRG_293t1:c.8362_8363del	NP_000050.2:p.Trp2788ValfsTer9
XM_011535203.1:c.8362_8363del	XP_011533505.1:p.Trp2788ValfsTer9
XM_011535204.1:c.8266_8267del	XP_011533506.1:p.Trp2756ValfsTer9
XM_011535205.1:c.8362_8363del	XP_011533507.1:p.Trp2788ValfsTer9
NM_000059.4:c.8362_8363del MANE Select	NP_000050.3:p.Trp2788ValfsTer9