Canonical Allele Identifier: CA10589317

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266880
• ClinVar RCV Id: RCV000257858
• dbSNP Id: rs886040595
• MyVariant Identifiers: chr13:g.32914042_32914058delinsTTGGCT (hg19) ; chr13:g.32339905_32339921delinsTTGGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339905_32339921delinsTTGGCT , CM000675.2:g.32339905_32339921delinsTTGGCT	GRCh38
NC_000013.10:g.32914042_32914058delinsTTGGCT , CM000675.1:g.32914042_32914058delinsTTGGCT	GRCh37
NC_000013.9:g.31812042_31812058delinsTTGGCT	NCBI36
NG_012772.3:g.29426_29442delinsTTGGCT , LRG_293:g.29426_29442delinsTTGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5550_5566delinsTTGGCT	ENSP00000434898.2:p.Lys1850AsnfsTer4
ENST00000528762.2:c.5550_5566delinsTTGGCT	ENSP00000433168.2:p.Lys1850AsnfsTer4
ENST00000530893.7:c.5181_5197delinsTTGGCT	ENSP00000499438.2:p.Lys1727AsnfsTer4
ENST00000665585.2:c.5550_5566delinsTTGGCT	ENSP00000499570.2:p.Lys1850AsnfsTer4
ENST00000666593.2:c.5550_5566delinsTTGGCT	ENSP00000499256.2:p.Lys1850AsnfsTer4
ENST00000700202.2:c.5550_5566delinsTTGGCT	ENSP00000514856.2:p.Lys1850AsnfsTer4
ENST00000380152.8:c.5550_5566delinsTTGGCT MANE Select	ENSP00000369497.3:p.Lys1850AsnfsTer4
ENST00000544455.6:c.5550_5566delinsTTGGCT	ENSP00000439902.1:p.Lys1850AsnfsTer4
ENST00000614259.2:c.5550_5566delinsTTGGCT	ENSP00000506251.1:p.Lys1850AsnfsTer4
ENST00000680887.1:c.5550_5566delinsTTGGCT	ENSP00000505508.1:p.Lys1850AsnfsTer4
ENST00000380152.7:c.5550_5566delinsTTGGCT	ENSP00000369497.3:p.Lys1850AsnfsTer4
ENST00000544455.5:c.5550_5566delinsTTGGCT	ENSP00000439902.1:p.Lys1850AsnfsTer4
ENST00000614259.1:n.5550_5566delinsTTGGCT
NM_000059.3:c.5550_5566delinsTTGGCT , LRG_293t1:c.5550_5566delinsTTGGCT	NP_000050.2:p.Lys1850AsnfsTer4
XM_011535203.1:c.5550_5566delinsTTGGCT	XP_011533505.1:p.Lys1850AsnfsTer4
XM_011535204.1:c.5550_5566delinsTTGGCT	XP_011533506.1:p.Lys1850AsnfsTer4
XM_011535205.1:c.5550_5566delinsTTGGCT	XP_011533507.1:p.Lys1850AsnfsTer4
NM_000059.4:c.5550_5566delinsTTGGCT MANE Select	NP_000050.3:p.Lys1850AsnfsTer4