Canonical Allele Identifier: CA697350101

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2756454
• ClinVar RCV Id: RCV003531265
• dbSNP Id: rs1465263505
• MyVariant Identifiers: chr13:g.32972551del (hg19) ; chr13:g.32398414del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398415del , CM000675.2:g.32398415del	GRCh38
NC_000013.10:g.32972552del , CM000675.1:g.32972552del	GRCh37
NC_000013.9:g.31870552del	NCBI36
NG_012772.3:g.87936del , LRG_293:g.87936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*425del	ENSP00000434898.2:n.*425del
ENST00000528762.2:c.*1269del	ENSP00000433168.2:n.*1269del
ENST00000530893.7:c.9533del	ENSP00000499438.2:p.Pro3178GlnfsTer12
ENST00000665585.2:c.*1464del	ENSP00000499570.2:n.*1464del
ENST00000700202.2:c.9851del	ENSP00000514856.2:p.Pro3284GlnfsTer12
ENST00000700202.1:c.2318del	ENSP00000514856.1:p.Pro773GlnfsTer12
ENST00000700203.1:n.2029del
ENST00000380152.8:c.9902del MANE Select	ENSP00000369497.3:p.Pro3301GlnfsTer12
ENST00000544455.6:c.9902del	ENSP00000439902.1:p.Pro3301GlnfsTer12
ENST00000614259.2:c.9910del	ENSP00000506251.1:n.9910del
ENST00000680887.1:c.9902del	ENSP00000505508.1:p.Pro3301GlnfsTer12
ENST00000380152.7:c.9902del	ENSP00000369497.3:p.Pro3301GlnfsTer12
ENST00000533776.1:n.490del
ENST00000544455.5:c.9902del	ENSP00000439902.1:p.Pro3301GlnfsTer12
NM_000059.3:c.9902del , LRG_293t1:c.9902del	NP_000050.2:p.Pro3301GlnfsTer12
XM_011535203.1:c.9902del	XP_011533505.1:p.Pro3301GlnfsTer12
XM_011535204.1:c.9806del	XP_011533506.1:p.Pro3269GlnfsTer12
NM_000059.4:c.9902del MANE Select	NP_000050.3:p.Pro3301GlnfsTer12