Canonical Allele Identifier: CA658683831

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 495496
• ClinVar RCV Id: RCV000588254
• dbSNP Id: rs1555281459
• MyVariant Identifiers: chr13:g.32905092_32905093del (hg19) ; chr13:g.32330955_32330956del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32330955_32330956del , CM000675.2:g.32330955_32330956del	GRCh38
NC_000013.10:g.32905092_32905093del , CM000675.1:g.32905092_32905093del	GRCh37
NC_000013.9:g.31803092_31803093del	NCBI36
NG_012772.3:g.20476_20477del , LRG_293:g.20476_20477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.718_719del	ENSP00000434898.2:p.Leu240GlufsTer4
ENST00000528762.2:c.718_719del	ENSP00000433168.2:p.Leu240GlufsTer4
ENST00000530893.7:c.349_350del	ENSP00000499438.2:p.Leu117GlufsTer4
ENST00000665585.2:c.718_719del	ENSP00000499570.2:p.Leu240GlufsTer4
ENST00000666593.2:c.718_719del	ENSP00000499256.2:p.Leu240GlufsTer4
ENST00000700202.2:c.718_719del	ENSP00000514856.2:p.Leu240GlufsTer4
ENST00000700201.1:c.*497_*498del	ENSP00000514855.1:n.*497_*498del
ENST00000380152.8:c.718_719del MANE Select	ENSP00000369497.3:p.Leu240GlufsTer4
ENST00000544455.6:c.718_719del	ENSP00000439902.1:p.Leu240GlufsTer4
ENST00000614259.2:c.718_719del	ENSP00000506251.1:p.Leu240GlufsTer4
ENST00000680887.1:c.718_719del	ENSP00000505508.1:p.Leu240GlufsTer4
ENST00000380152.7:c.718_719del	ENSP00000369497.3:p.Leu240GlufsTer4
ENST00000530893.6:n.916_917del
ENST00000544455.5:c.718_719del	ENSP00000439902.1:p.Leu240GlufsTer4
ENST00000614259.1:n.718_719del
NM_000059.3:c.718_719del , LRG_293t1:c.718_719del	NP_000050.2:p.Leu240GlufsTer4
XM_011535203.1:c.718_719del	XP_011533505.1:p.Leu240GlufsTer4
XM_011535204.1:c.718_719del	XP_011533506.1:p.Leu240GlufsTer4
XM_011535205.1:c.718_719del	XP_011533507.1:p.Leu240GlufsTer4
NM_000059.4:c.718_719del MANE Select	NP_000050.3:p.Leu240GlufsTer4