Canonical Allele Identifier: CA012855

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51171
• ClinVar RCV Id: RCV000257260 ; RCV002465496
• dbSNP Id: rs397507600
• MyVariant Identifiers: chr13:g.32907285_32907298del (hg19) ; chr13:g.32333148_32333161del (hg38)
• PubMed: PMID:20104584

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333148_32333161del , CM000675.2:g.32333148_32333161del	GRCh38
NC_000013.10:g.32907285_32907298del , CM000675.1:g.32907285_32907298del	GRCh37
NC_000013.9:g.31805285_31805298del	NCBI36
NG_012772.3:g.22669_22682del , LRG_293:g.22669_22682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1670_1683del	ENSP00000434898.2:p.Leu557Ter
ENST00000528762.2:c.1670_1683del	ENSP00000433168.2:p.Leu557Ter
ENST00000530893.7:c.1301_1314del	ENSP00000499438.2:p.Leu434Ter
ENST00000665585.2:c.1670_1683del	ENSP00000499570.2:p.Leu557Ter
ENST00000666593.2:c.1670_1683del	ENSP00000499256.2:p.Leu557Ter
ENST00000700202.2:c.1670_1683del	ENSP00000514856.2:p.Leu557Ter
ENST00000700201.1:c.*1449_*1462del	ENSP00000514855.1:n.*1449_*1462del
ENST00000380152.8:c.1670_1683del MANE Select	ENSP00000369497.3:p.Leu557Ter
ENST00000544455.6:c.1670_1683del	ENSP00000439902.1:p.Leu557Ter
ENST00000614259.2:c.1670_1683del	ENSP00000506251.1:p.Leu557Ter
ENST00000680887.1:c.1670_1683del	ENSP00000505508.1:p.Leu557Ter
ENST00000380152.7:c.1670_1683del	ENSP00000369497.3:p.Leu557Ter
ENST00000530893.6:n.1868_1881del
ENST00000544455.5:c.1670_1683del	ENSP00000439902.1:p.Leu557Ter
ENST00000614259.1:n.1670_1683del
NM_000059.3:c.1670_1683del , LRG_293t1:c.1670_1683del	NP_000050.2:p.Leu557Ter
XM_011535203.1:c.1670_1683del	XP_011533505.1:p.Leu557Ter
XM_011535204.1:c.1670_1683del	XP_011533506.1:p.Leu557Ter
XM_011535205.1:c.1670_1683del	XP_011533507.1:p.Leu557Ter
NM_000059.4:c.1670_1683del MANE Select	NP_000050.3:p.Leu557Ter