Canonical Allele Identifier: CA025092

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52333
• ClinVar RCV Id: RCV000113761 ; RCV001092809
• dbSNP Id: rs80359652
• MyVariant Identifiers: chr13:g.32930572del (hg19) ; chr13:g.32356435del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356435del , CM000675.2:g.32356435del	GRCh38
NC_000013.10:g.32930572del , CM000675.1:g.32930572del	GRCh37
NC_000013.9:g.31828572del	NCBI36
NG_012772.3:g.45956del , LRG_293:g.45956del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7443del	ENSP00000434898.2:p.Thr2482GlnfsTer?
ENST00000528762.2:c.7443del	ENSP00000433168.2:p.Thr2482GlnfsTer?
ENST00000530893.7:c.7074del	ENSP00000499438.2:p.Thr2359GlnfsTer?
ENST00000665585.2:c.7443del	ENSP00000499570.2:p.Thr2482GlnfsTer?
ENST00000666593.2:c.7443del	ENSP00000499256.2:p.Thr2482GlnfsTer?
ENST00000700202.2:c.7443del	ENSP00000514856.2:p.Thr2482GlnfsTer?
ENST00000380152.8:c.7443del MANE Select	ENSP00000369497.3:p.Thr2482GlnfsTer?
ENST00000544455.6:c.7443del	ENSP00000439902.1:p.Thr2482GlnfsTer?
ENST00000614259.2:c.7443del	ENSP00000506251.1:p.Thr2482GlnfsTer?
ENST00000665585.1:c.8del
ENST00000680887.1:c.7443del	ENSP00000505508.1:p.Thr2482GlnfsTer?
ENST00000380152.7:c.7443del	ENSP00000369497.3:p.Thr2482GlnfsTer?
ENST00000544455.5:c.7443del	ENSP00000439902.1:p.Thr2482GlnfsTer?
ENST00000614259.1:n.7443del
NM_000059.3:c.7443del , LRG_293t1:c.7443del	NP_000050.2:p.Thr2482GlnfsTer?
XM_011535203.1:c.7443del	XP_011533505.1:p.Thr2482GlnfsTer?
XM_011535204.1:c.7347del	XP_011533506.1:p.Thr2450GlnfsTer?
XM_011535205.1:c.7443del	XP_011533507.1:p.Thr2482GlnfsTer?
NM_000059.4:c.7443del MANE Select	NP_000050.3:p.Thr2482GlnfsTer?