Canonical Allele Identifier: CA025565

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52544
• ClinVar RCV Id: RCV000577696 ; RCV000661542
• dbSNP Id: rs397507976
• MyVariant Identifiers: chr13:g.32937656_32937669del (hg19) ; chr13:g.32363519_32363532del (hg38)
• PubMed: PMID:16683254

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363519_32363532del , CM000675.2:g.32363519_32363532del	GRCh38
NC_000013.10:g.32937656_32937669del , CM000675.1:g.32937656_32937669del	GRCh37
NC_000013.9:g.31835656_31835669del	NCBI36
NG_012772.3:g.53040_53053del , LRG_293:g.53040_53053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8317_8330del	ENSP00000434898.2:p.Ser2773AspfsTer4
ENST00000528762.2:c.8317_8330del	ENSP00000433168.2:p.Ser2773AspfsTer4
ENST00000530893.7:c.7948_7961del	ENSP00000499438.2:p.Ser2650AspfsTer4
ENST00000665585.2:c.8317_8330del	ENSP00000499570.2:p.Ser2773AspfsTer4
ENST00000666593.2:c.8317_8330del	ENSP00000499256.2:p.Ser2773AspfsTer4
ENST00000700202.2:c.8317_8330del	ENSP00000514856.2:p.Ser2773AspfsTer4
ENST00000700202.1:c.784_797del	ENSP00000514856.1:p.Ser262AspfsTer4
ENST00000380152.8:c.8317_8330del MANE Select	ENSP00000369497.3:p.Ser2773AspfsTer4
ENST00000544455.6:c.8317_8330del	ENSP00000439902.1:p.Ser2773AspfsTer4
ENST00000614259.2:c.8325_8338del	ENSP00000506251.1:n.8325_8338del
ENST00000665585.1:c.882_895del
ENST00000680887.1:c.8317_8330del	ENSP00000505508.1:p.Ser2773AspfsTer4
ENST00000380152.7:c.8317_8330del	ENSP00000369497.3:p.Ser2773AspfsTer4
ENST00000544455.5:c.8317_8330del	ENSP00000439902.1:p.Ser2773AspfsTer4
NM_000059.3:c.8317_8330del , LRG_293t1:c.8317_8330del	NP_000050.2:p.Ser2773AspfsTer4
XM_011535203.1:c.8317_8330del	XP_011533505.1:p.Ser2773AspfsTer4
XM_011535204.1:c.8221_8234del	XP_011533506.1:p.Ser2741AspfsTer4
XM_011535205.1:c.8317_8330del	XP_011533507.1:p.Ser2773AspfsTer4
NM_000059.4:c.8317_8330del MANE Select	NP_000050.3:p.Ser2773AspfsTer4