Canonical Allele Identifier: CA10589346

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266915
• ClinVar RCV Id: RCV000257305
• dbSNP Id: rs886040628
• MyVariant Identifiers: chr13:g.32914508_32914511del (hg19) ; chr13:g.32340371_32340374del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340371_32340374del , CM000675.2:g.32340371_32340374del	GRCh38
NC_000013.10:g.32914508_32914511del , CM000675.1:g.32914508_32914511del	GRCh37
NC_000013.9:g.31812508_31812511del	NCBI36
NG_012772.3:g.29892_29895del , LRG_293:g.29892_29895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6016_6019del	ENSP00000434898.2:p.Ser2006ProfsTer?
ENST00000528762.2:c.6016_6019del	ENSP00000433168.2:p.Ser2006ProfsTer?
ENST00000530893.7:c.5647_5650del	ENSP00000499438.2:p.Ser1883ProfsTer?
ENST00000665585.2:c.6016_6019del	ENSP00000499570.2:p.Ser2006ProfsTer?
ENST00000666593.2:c.6016_6019del	ENSP00000499256.2:p.Ser2006ProfsTer?
ENST00000700202.2:c.6016_6019del	ENSP00000514856.2:p.Ser2006ProfsTer?
ENST00000380152.8:c.6016_6019del MANE Select	ENSP00000369497.3:p.Ser2006ProfsTer?
ENST00000544455.6:c.6016_6019del	ENSP00000439902.1:p.Ser2006ProfsTer?
ENST00000614259.2:c.6016_6019del	ENSP00000506251.1:p.Ser2006ProfsTer?
ENST00000680887.1:c.6016_6019del	ENSP00000505508.1:p.Ser2006ProfsTer?
ENST00000380152.7:c.6016_6019del	ENSP00000369497.3:p.Ser2006ProfsTer?
ENST00000544455.5:c.6016_6019del	ENSP00000439902.1:p.Ser2006ProfsTer?
ENST00000614259.1:n.6016_6019del
NM_000059.3:c.6016_6019del , LRG_293t1:c.6016_6019del	NP_000050.2:p.Ser2006ProfsTer?
XM_011535203.1:c.6016_6019del	XP_011533505.1:p.Ser2006ProfsTer?
XM_011535204.1:c.6016_6019del	XP_011533506.1:p.Ser2006ProfsTer?
XM_011535205.1:c.6016_6019del	XP_011533507.1:p.Ser2006ProfsTer?
NM_000059.4:c.6016_6019del MANE Select	NP_000050.3:p.Ser2006ProfsTer?