Canonical Allele Identifier: CA10579745

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 230259
• ClinVar RCV Id: RCV000223321 ; RCV000661638 ; RCV001388250
• dbSNP Id: rs876658470
• MyVariant Identifiers: chr13:g.32930731del (hg19) ; chr13:g.32356594del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356594del , CM000675.2:g.32356594del	GRCh38
NC_000013.10:g.32930731del , CM000675.1:g.32930731del	GRCh37
NC_000013.9:g.31828731del	NCBI36
NG_012772.3:g.46115del , LRG_293:g.46115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7602del	ENSP00000434898.2:p.Cys2535ValfsTer16
ENST00000528762.2:c.7602del	ENSP00000433168.2:p.Cys2535ValfsTer16
ENST00000530893.7:c.7233del	ENSP00000499438.2:p.Cys2412ValfsTer16
ENST00000665585.2:c.7602del	ENSP00000499570.2:p.Cys2535ValfsTer16
ENST00000666593.2:c.7602del	ENSP00000499256.2:p.Cys2535ValfsTer16
ENST00000700202.2:c.7602del	ENSP00000514856.2:p.Cys2535ValfsTer16
ENST00000700202.1:c.69del	ENSP00000514856.1:p.Cys24ValfsTer16
ENST00000380152.8:c.7602del MANE Select	ENSP00000369497.3:p.Cys2535ValfsTer16
ENST00000544455.6:c.7602del	ENSP00000439902.1:p.Cys2535ValfsTer16
ENST00000614259.2:c.7602del	ENSP00000506251.1:p.Cys2535ValfsTer16
ENST00000665585.1:c.167del
ENST00000680887.1:c.7602del	ENSP00000505508.1:p.Cys2535ValfsTer16
ENST00000380152.7:c.7602del	ENSP00000369497.3:p.Cys2535ValfsTer16
ENST00000544455.5:c.7602del	ENSP00000439902.1:p.Cys2535ValfsTer16
ENST00000614259.1:n.7602del
NM_000059.3:c.7602del , LRG_293t1:c.7602del	NP_000050.2:p.Cys2535ValfsTer16
XM_011535203.1:c.7602del	XP_011533505.1:p.Cys2535ValfsTer16
XM_011535204.1:c.7506del	XP_011533506.1:p.Cys2503ValfsTer16
XM_011535205.1:c.7602del	XP_011533507.1:p.Cys2535ValfsTer16
NM_000059.4:c.7602del MANE Select	NP_000050.3:p.Cys2535ValfsTer16