Canonical Allele Identifier: CA10589202

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266750
• ClinVar RCV Id: RCV000257030
• dbSNP Id: rs886040474
• MyVariant Identifiers: chr13:g.32911901_32911913del (hg19) ; chr13:g.32337764_32337776del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337764_32337776del , CM000675.2:g.32337764_32337776del	GRCh38
NC_000013.10:g.32911901_32911913del , CM000675.1:g.32911901_32911913del	GRCh37
NC_000013.9:g.31809901_31809913del	NCBI36
NG_012772.3:g.27285_27297del , LRG_293:g.27285_27297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3409_3421del	ENSP00000434898.2:p.Leu1137HisfsTer9
ENST00000528762.2:c.3409_3421del	ENSP00000433168.2:p.Leu1137HisfsTer9
ENST00000530893.7:c.3040_3052del	ENSP00000499438.2:p.Leu1014HisfsTer9
ENST00000665585.2:c.3409_3421del	ENSP00000499570.2:p.Leu1137HisfsTer9
ENST00000666593.2:c.3409_3421del	ENSP00000499256.2:p.Leu1137HisfsTer9
ENST00000700202.2:c.3409_3421del	ENSP00000514856.2:p.Leu1137HisfsTer9
ENST00000380152.8:c.3409_3421del MANE Select	ENSP00000369497.3:p.Leu1137HisfsTer9
ENST00000544455.6:c.3409_3421del	ENSP00000439902.1:p.Leu1137HisfsTer9
ENST00000614259.2:c.3409_3421del	ENSP00000506251.1:p.Leu1137HisfsTer9
ENST00000680887.1:c.3409_3421del	ENSP00000505508.1:p.Leu1137HisfsTer9
ENST00000380152.7:c.3409_3421del	ENSP00000369497.3:p.Leu1137HisfsTer9
ENST00000544455.5:c.3409_3421del	ENSP00000439902.1:p.Leu1137HisfsTer9
ENST00000614259.1:n.3409_3421del
NM_000059.3:c.3409_3421del , LRG_293t1:c.3409_3421del	NP_000050.2:p.Leu1137HisfsTer9
XM_011535203.1:c.3409_3421del	XP_011533505.1:p.Leu1137HisfsTer9
XM_011535204.1:c.3409_3421del	XP_011533506.1:p.Leu1137HisfsTer9
XM_011535205.1:c.3409_3421del	XP_011533507.1:p.Leu1137HisfsTer9
NM_000059.4:c.3409_3421del MANE Select	NP_000050.3:p.Leu1137HisfsTer9