Canonical Allele Identifier: CA023049

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 193789
• ClinVar RCV Id: RCV000637462 ; RCV000173957 ; RCV002345599 ; RCV000724578
• dbSNP Id: rs794727014
• gnomAD v4: 13-32340077-CTAGAT-C
• MyVariant Identifiers: chr13:g.32914215_32914219del (hg19) ; chr13:g.32340078_32340082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340078_32340082del , CM000675.2:g.32340078_32340082del	GRCh38
NC_000013.10:g.32914215_32914219del , CM000675.1:g.32914215_32914219del	GRCh37
NC_000013.9:g.31812215_31812219del	NCBI36
NG_012772.3:g.29599_29603del , LRG_293:g.29599_29603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5723_5727del	ENSP00000434898.2:p.Leu1908GlnfsTer2
ENST00000528762.2:c.5723_5727del	ENSP00000433168.2:p.Leu1908GlnfsTer2
ENST00000530893.7:c.5354_5358del	ENSP00000499438.2:p.Leu1785GlnfsTer2
ENST00000665585.2:c.5723_5727del	ENSP00000499570.2:p.Leu1908GlnfsTer2
ENST00000666593.2:c.5723_5727del	ENSP00000499256.2:p.Leu1908GlnfsTer2
ENST00000700202.2:c.5723_5727del	ENSP00000514856.2:p.Leu1908GlnfsTer2
ENST00000380152.8:c.5723_5727del MANE Select	ENSP00000369497.3:p.Leu1908GlnfsTer2
ENST00000544455.6:c.5723_5727del	ENSP00000439902.1:p.Leu1908GlnfsTer2
ENST00000614259.2:c.5723_5727del	ENSP00000506251.1:p.Leu1908GlnfsTer2
ENST00000680887.1:c.5723_5727del	ENSP00000505508.1:p.Leu1908GlnfsTer2
ENST00000380152.7:c.5723_5727del	ENSP00000369497.3:p.Leu1908GlnfsTer2
ENST00000544455.5:c.5723_5727del	ENSP00000439902.1:p.Leu1908GlnfsTer2
ENST00000614259.1:n.5723_5727del
NM_000059.3:c.5723_5727del , LRG_293t1:c.5723_5727del	NP_000050.2:p.Leu1908GlnfsTer2
XM_011535203.1:c.5723_5727del	XP_011533505.1:p.Leu1908GlnfsTer2
XM_011535204.1:c.5723_5727del	XP_011533506.1:p.Leu1908GlnfsTer2
XM_011535205.1:c.5723_5727del	XP_011533507.1:p.Leu1908GlnfsTer2
NM_000059.4:c.5723_5727del MANE Select	NP_000050.3:p.Leu1908GlnfsTer2