Canonical Allele Identifier: CA10589533

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267124
• ClinVar RCV Id: RCV000256719
• dbSNP Id: rs886040806
• MyVariant Identifiers: chr13:g.32953892_32953895del (hg19) ; chr13:g.32379755_32379758del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379755_32379758del , CM000675.2:g.32379755_32379758del	GRCh38
NC_000013.10:g.32953892_32953895del , CM000675.1:g.32953892_32953895del	GRCh37
NC_000013.9:g.31851892_31851895del	NCBI36
NG_012772.3:g.69276_69279del , LRG_293:g.69276_69279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8959_8962del	ENSP00000434898.2:p.Leu2987ValfsTer13
ENST00000528762.2:c.*326_*329del	ENSP00000433168.2:n.*326_*329del
ENST00000530893.7:c.8590_8593del	ENSP00000499438.2:p.Leu2864ValfsTer13
ENST00000665585.2:c.*521_*524del	ENSP00000499570.2:n.*521_*524del
ENST00000666593.2:c.8959_8962del	ENSP00000499256.2:p.Leu2987ValfsTer13
ENST00000700202.2:c.8954-46_8954-43del	ENSP00000514856.2:n.8954-46_8954-43del
ENST00000700202.1:c.1421-46_1421-43del	ENSP00000514856.1:n.1421-46_1421-43del
ENST00000700203.1:n.1086_1089del
ENST00000380152.8:c.8959_8962del MANE Select	ENSP00000369497.3:p.Leu2987ValfsTer13
ENST00000544455.6:c.8959_8962del	ENSP00000439902.1:p.Leu2987ValfsTer13
ENST00000614259.2:c.8967_8970del	ENSP00000506251.1:n.8967_8970del
ENST00000665585.1:c.1837_1840del
ENST00000680887.1:c.8959_8962del	ENSP00000505508.1:p.Leu2987ValfsTer13
ENST00000380152.7:c.8959_8962del	ENSP00000369497.3:p.Leu2987ValfsTer13
ENST00000544455.5:c.8959_8962del	ENSP00000439902.1:p.Leu2987ValfsTer13
NM_000059.3:c.8959_8962del , LRG_293t1:c.8959_8962del	NP_000050.2:p.Leu2987ValfsTer13
XM_011535203.1:c.8959_8962del	XP_011533505.1:p.Leu2987ValfsTer13
XM_011535204.1:c.8863_8866del	XP_011533506.1:p.Leu2955ValfsTer13
XM_011535205.1:c.8760_8763del	XP_011533507.1:p.Tyr2920Ter
NM_000059.4:c.8959_8962del MANE Select	NP_000050.3:p.Leu2987ValfsTer13