Canonical Allele Identifier: CA10589051

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267029
• ClinVar RCV Id: RCV000257266
• dbSNP Id: rs886040725
• MyVariant Identifiers: chr13:g.32905139_32905144delinsAAACAAT (hg19) ; chr13:g.32331002_32331007delinsAAACAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32331002_32331007delinsAAACAAT , CM000675.2:g.32331002_32331007delinsAAACAAT	GRCh38
NC_000013.10:g.32905139_32905144delinsAAACAAT , CM000675.1:g.32905139_32905144delinsAAACAAT	GRCh37
NC_000013.9:g.31803139_31803144delinsAAACAAT	NCBI36
NG_012772.3:g.20523_20528delinsAAACAAT , LRG_293:g.20523_20528delinsAAACAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.765_770delinsAAACAAT	ENSP00000434898.2:p.Asn255LysfsTer21
ENST00000528762.2:c.765_770delinsAAACAAT	ENSP00000433168.2:p.Asn255LysfsTer21
ENST00000530893.7:c.396_401delinsAAACAAT	ENSP00000499438.2:p.Asn132LysfsTer21
ENST00000665585.2:c.765_770delinsAAACAAT	ENSP00000499570.2:p.Asn255LysfsTer21
ENST00000666593.2:c.765_770delinsAAACAAT	ENSP00000499256.2:p.Asn255LysfsTer21
ENST00000700202.2:c.765_770delinsAAACAAT	ENSP00000514856.2:p.Asn255LysfsTer21
ENST00000700201.1:c.*544_*549delinsAAACAAT	ENSP00000514855.1:n.*544_*549delinsAAACAAT
ENST00000380152.8:c.765_770delinsAAACAAT MANE Select	ENSP00000369497.3:p.Asn255LysfsTer21
ENST00000544455.6:c.765_770delinsAAACAAT	ENSP00000439902.1:p.Asn255LysfsTer21
ENST00000614259.2:c.765_770delinsAAACAAT	ENSP00000506251.1:p.Asn255LysfsTer21
ENST00000680887.1:c.765_770delinsAAACAAT	ENSP00000505508.1:p.Asn255LysfsTer21
ENST00000380152.7:c.765_770delinsAAACAAT	ENSP00000369497.3:p.Asn255LysfsTer21
ENST00000530893.6:n.963_968delinsAAACAAT
ENST00000544455.5:c.765_770delinsAAACAAT	ENSP00000439902.1:p.Asn255LysfsTer21
ENST00000614259.1:n.765_770delinsAAACAAT
NM_000059.3:c.765_770delinsAAACAAT , LRG_293t1:c.765_770delinsAAACAAT	NP_000050.2:p.Asn255LysfsTer21
XM_011535203.1:c.765_770delinsAAACAAT	XP_011533505.1:p.Asn255LysfsTer21
XM_011535204.1:c.765_770delinsAAACAAT	XP_011533506.1:p.Asn255LysfsTer21
XM_011535205.1:c.765_770delinsAAACAAT	XP_011533507.1:p.Asn255LysfsTer21
NM_000059.4:c.765_770delinsAAACAAT MANE Select	NP_000050.3:p.Asn255LysfsTer21