Canonical Allele Identifier: CA10589574

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267172
• ClinVar RCV Id: RCV000257106 ; RCV001019742 ; RCV000513587 ; RCV000792005
• dbSNP Id: rs886040851
• MyVariant Identifiers: chr13:g.32972439_32972440del (hg19) ; chr13:g.32398302_32398303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398302_32398303del , CM000675.2:g.32398302_32398303del	GRCh38
NC_000013.10:g.32972439_32972440del , CM000675.1:g.32972439_32972440del	GRCh37
NC_000013.9:g.31870439_31870440del	NCBI36
NG_012772.3:g.87823_87824del , LRG_293:g.87823_87824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*312_*313del	ENSP00000434898.2:n.*312_*313del
ENST00000528762.2:c.*1156_*1157del	ENSP00000433168.2:n.*1156_*1157del
ENST00000530893.7:c.9420_9421del	ENSP00000499438.2:p.Asn3141LeufsTer12
ENST00000665585.2:c.*1351_*1352del	ENSP00000499570.2:n.*1351_*1352del
ENST00000700202.2:c.9738_9739del	ENSP00000514856.2:p.Asn3247LeufsTer12
ENST00000700202.1:c.2205_2206del	ENSP00000514856.1:p.Asn736LeufsTer12
ENST00000700203.1:n.1916_1917del
ENST00000380152.8:c.9789_9790del MANE Select	ENSP00000369497.3:p.Asn3264LeufsTer12
ENST00000544455.6:c.9789_9790del	ENSP00000439902.1:p.Asn3264LeufsTer12
ENST00000614259.2:c.9797_9798del	ENSP00000506251.1:n.9797_9798del
ENST00000680887.1:c.9789_9790del	ENSP00000505508.1:p.Asn3264LeufsTer12
ENST00000380152.7:c.9789_9790del	ENSP00000369497.3:p.Asn3264LeufsTer12
ENST00000533776.1:n.377_378del
ENST00000544455.5:c.9789_9790del	ENSP00000439902.1:p.Asn3264LeufsTer12
NM_000059.3:c.9789_9790del , LRG_293t1:c.9789_9790del	NP_000050.2:p.Asn3264LeufsTer12
XM_011535203.1:c.9789_9790del	XP_011533505.1:p.Asn3264LeufsTer12
XM_011535204.1:c.9693_9694del	XP_011533506.1:p.Asn3232LeufsTer12
NM_000059.4:c.9789_9790del MANE Select	NP_000050.3:p.Asn3264LeufsTer12