Canonical Allele Identifier: CA10579849

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 232077
• ClinVar RCV Id: RCV000222145 ; RCV000234718 ; RCV000483519 ; RCV002509317 ; RCV003462486
• dbSNP Id: rs876659538
• MyVariant Identifiers: chr13:g.32972556_32972557delinsTT (hg19) ; chr13:g.32398419_32398420delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398419_32398420delinsTT , CM000675.2:g.32398419_32398420delinsTT	GRCh38
NC_000013.10:g.32972556_32972557delinsTT , CM000675.1:g.32972556_32972557delinsTT	GRCh37
NC_000013.9:g.31870556_31870557delinsTT	NCBI36
NG_012772.3:g.87940_87941delinsTT , LRG_293:g.87940_87941delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*429_*430delinsTT	ENSP00000434898.2:n.*429_*430delinsTT
ENST00000528762.2:c.*1273_*1274delinsTT	ENSP00000433168.2:n.*1273_*1274delinsTT
ENST00000530893.7:c.9537_9538delinsTT	ENSP00000499438.2:p.Arg3179_Ser3180delinsSerCys
ENST00000665585.2:c.*1468_*1469delinsTT	ENSP00000499570.2:n.*1468_*1469delinsTT
ENST00000700202.2:c.9855_9856delinsTT	ENSP00000514856.2:p.Arg3285_Ser3286delinsSerCys
ENST00000700202.1:c.2322_2323delinsTT	ENSP00000514856.1:p.Arg774_Ser775delinsSerCys
ENST00000700203.1:n.2033_2034delinsTT
ENST00000380152.8:c.9906_9907delinsTT MANE Select	ENSP00000369497.3:p.Arg3302_Ser3303delinsSerCys
ENST00000544455.6:c.9906_9907delinsTT	ENSP00000439902.1:p.Arg3302_Ser3303delinsSerCys
ENST00000614259.2:c.9914_9915delinsTT	ENSP00000506251.1:n.9914_9915delinsTT
ENST00000680887.1:c.9906_9907delinsTT	ENSP00000505508.1:p.Arg3302_Ser3303delinsSerCys
ENST00000380152.7:c.9906_9907delinsTT	ENSP00000369497.3:p.Arg3302_Ser3303delinsSerCys
ENST00000533776.1:n.494_495delinsTT
ENST00000544455.5:c.9906_9907delinsTT	ENSP00000439902.1:p.Arg3302_Ser3303delinsSerCys
NM_000059.3:c.9906_9907delinsTT , LRG_293t1:c.9906_9907delinsTT	NP_000050.2:p.Arg3302_Ser3303delinsSerCys
XM_011535203.1:c.9906_9907delinsTT	XP_011533505.1:p.Arg3302_Ser3303delinsSerCys
XM_011535204.1:c.9810_9811delinsTT	XP_011533506.1:p.Arg3270_Ser3271delinsSerCys
NM_000059.4:c.9906_9907delinsTT MANE Select	NP_000050.3:p.Arg3302_Ser3303delinsSerCys