Canonical Allele Identifier: CA026317

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52909
• ClinVar RCV Id: RCV000112818 ; RCV001389854 ; RCV003221796
• dbSNP Id: rs80359776
• MyVariant Identifiers: chr13:g.32972518del (hg19) ; chr13:g.32398381del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398381del , CM000675.2:g.32398381del	GRCh38
NC_000013.10:g.32972518del , CM000675.1:g.32972518del	GRCh37
NC_000013.9:g.31870518del	NCBI36
NG_012772.3:g.87902del , LRG_293:g.87902del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*391del	ENSP00000434898.2:n.*391del
ENST00000528762.2:c.*1235del	ENSP00000433168.2:n.*1235del
ENST00000530893.7:c.9499del	ENSP00000499438.2:p.Val3167PhefsTer23
ENST00000665585.2:c.*1430del	ENSP00000499570.2:n.*1430del
ENST00000700202.2:c.9817del	ENSP00000514856.2:p.Val3273PhefsTer23
ENST00000700202.1:c.2284del	ENSP00000514856.1:p.Val762PhefsTer23
ENST00000700203.1:n.1995del
ENST00000380152.8:c.9868del MANE Select	ENSP00000369497.3:p.Val3290PhefsTer23
ENST00000544455.6:c.9868del	ENSP00000439902.1:p.Val3290PhefsTer23
ENST00000614259.2:c.9876del	ENSP00000506251.1:n.9876del
ENST00000680887.1:c.9868del	ENSP00000505508.1:p.Val3290PhefsTer23
ENST00000380152.7:c.9868del	ENSP00000369497.3:p.Val3290PhefsTer23
ENST00000533776.1:n.456del
ENST00000544455.5:c.9868del	ENSP00000439902.1:p.Val3290PhefsTer23
NM_000059.3:c.9868del , LRG_293t1:c.9868del	NP_000050.2:p.Val3290PhefsTer23
XM_011535203.1:c.9868del	XP_011533505.1:p.Val3290PhefsTer23
XM_011535204.1:c.9772del	XP_011533506.1:p.Val3258PhefsTer23
NM_000059.4:c.9868del MANE Select	NP_000050.3:p.Val3290PhefsTer23