Canonical Allele Identifier: CA10579614

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 233598
• ClinVar RCV Id: RCV000223548 ; RCV000661806 ; RCV000695317
• dbSNP Id: rs876660510
• MyVariant Identifiers: chr13:g.32912875_32912876del (hg19) ; chr13:g.32338738_32338739del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338738_32338739del , CM000675.2:g.32338738_32338739del	GRCh38
NC_000013.10:g.32912875_32912876del , CM000675.1:g.32912875_32912876del	GRCh37
NC_000013.9:g.31810875_31810876del	NCBI36
NG_012772.3:g.28259_28260del , LRG_293:g.28259_28260del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.4383_4384del	ENSP00000434898.2:p.Leu1462LysfsTer3
ENST00000528762.2:c.4383_4384del	ENSP00000433168.2:p.Leu1462LysfsTer3
ENST00000530893.7:c.4014_4015del	ENSP00000499438.2:p.Leu1339LysfsTer3
ENST00000665585.2:c.4383_4384del	ENSP00000499570.2:p.Leu1462LysfsTer3
ENST00000666593.2:c.4383_4384del	ENSP00000499256.2:p.Leu1462LysfsTer3
ENST00000700202.2:c.4383_4384del	ENSP00000514856.2:p.Leu1462LysfsTer3
ENST00000380152.8:c.4383_4384del MANE Select	ENSP00000369497.3:p.Leu1462LysfsTer3
ENST00000544455.6:c.4383_4384del	ENSP00000439902.1:p.Leu1462LysfsTer3
ENST00000614259.2:c.4383_4384del	ENSP00000506251.1:p.Leu1462LysfsTer3
ENST00000680887.1:c.4383_4384del	ENSP00000505508.1:p.Leu1462LysfsTer3
ENST00000380152.7:c.4383_4384del	ENSP00000369497.3:p.Leu1462LysfsTer3
ENST00000544455.5:c.4383_4384del	ENSP00000439902.1:p.Leu1462LysfsTer3
ENST00000614259.1:n.4383_4384del
NM_000059.3:c.4383_4384del , LRG_293t1:c.4383_4384del	NP_000050.2:p.Leu1462LysfsTer3
XM_011535203.1:c.4383_4384del	XP_011533505.1:p.Leu1462LysfsTer3
XM_011535204.1:c.4383_4384del	XP_011533506.1:p.Leu1462LysfsTer3
XM_011535205.1:c.4383_4384del	XP_011533507.1:p.Leu1462LysfsTer3
NM_000059.4:c.4383_4384del MANE Select	NP_000050.3:p.Leu1462LysfsTer3