Canonical Allele Identifier: CA658656341

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 483015
• ClinVar RCV Id: RCV000561067
• dbSNP Id: rs886040519
• MyVariant Identifiers: chr13:g.32900240del (hg19) ; chr13:g.32326103del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326103del , CM000675.2:g.32326103del	GRCh38
NC_000013.10:g.32900240del , CM000675.1:g.32900240del	GRCh37
NC_000013.9:g.31798240del	NCBI36
NG_012772.3:g.15624del , LRG_293:g.15624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.428del	ENSP00000434898.2:p.Pro143LeufsTer9
ENST00000528762.2:c.428del	ENSP00000433168.2:p.Pro143LeufsTer9
ENST00000530893.7:c.59del	ENSP00000499438.2:p.Pro20LeufsTer9
ENST00000665585.2:c.428del	ENSP00000499570.2:p.Pro143LeufsTer9
ENST00000666593.2:c.428del	ENSP00000499256.2:p.Pro143LeufsTer9
ENST00000700202.2:c.428del	ENSP00000514856.2:p.Pro143LeufsTer9
ENST00000700200.1:n.299del
ENST00000700201.1:c.*207del	ENSP00000514855.1:n.*207del
ENST00000380152.8:c.428del MANE Select	ENSP00000369497.3:p.Pro143LeufsTer9
ENST00000544455.6:c.428del	ENSP00000439902.1:p.Pro143LeufsTer9
ENST00000614259.2:c.428del	ENSP00000506251.1:p.Pro143LeufsTer9
ENST00000680887.1:c.428del	ENSP00000505508.1:p.Pro143LeufsTer9
ENST00000380152.7:c.428del	ENSP00000369497.3:p.Pro143LeufsTer9
ENST00000530893.6:n.626del
ENST00000544455.5:c.428del	ENSP00000439902.1:p.Pro143LeufsTer9
ENST00000614259.1:n.428del
NM_000059.3:c.428del , LRG_293t1:c.428del	NP_000050.2:p.Pro143LeufsTer9
XM_011535203.1:c.428del	XP_011533505.1:p.Pro143LeufsTer9
XM_011535204.1:c.428del	XP_011533506.1:p.Pro143LeufsTer9
XM_011535205.1:c.428del	XP_011533507.1:p.Pro143LeufsTer9
NM_000059.4:c.428del MANE Select	NP_000050.3:p.Pro143LeufsTer9