Canonical Allele Identifier: CA645372929

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 431340
• ClinVar RCV Id: RCV000496790 ; RCV000661419
• dbSNP Id: rs1135401922

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363204_32363205delinsTA , CM000675.2:g.32363204_32363205delinsTA	GRCh38
NC_000013.10:g.32937341_32937342delinsTA , CM000675.1:g.32937341_32937342delinsTA	GRCh37
NC_000013.9:g.31835341_31835342delinsTA	NCBI36
NG_012772.3:g.52725_52726delinsTA , LRG_293:g.52725_52726delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8002_8003delinsTA	ENSP00000434898.2:p.Arg2668Ter
ENST00000528762.2:c.8002_8003delinsTA	ENSP00000433168.2:p.Arg2668Ter
ENST00000530893.7:c.7633_7634delinsTA	ENSP00000499438.2:p.Arg2545Ter
ENST00000665585.2:c.8002_8003delinsTA	ENSP00000499570.2:p.Arg2668Ter
ENST00000666593.2:c.8002_8003delinsTA	ENSP00000499256.2:p.Arg2668Ter
ENST00000700202.2:c.8002_8003delinsTA	ENSP00000514856.2:p.Arg2668Ter
ENST00000700202.1:c.469_470delinsTA	ENSP00000514856.1:p.Arg157Ter
ENST00000380152.8:c.8002_8003delinsTA MANE Select	ENSP00000369497.3:p.Arg2668Ter
ENST00000544455.6:c.8002_8003delinsTA	ENSP00000439902.1:p.Arg2668Ter
ENST00000614259.2:c.8010_8011delinsTA	ENSP00000506251.1:n.8010_8011delinsTA
ENST00000665585.1:c.567_568delinsTA
ENST00000680887.1:c.8002_8003delinsTA	ENSP00000505508.1:p.Arg2668Ter
ENST00000380152.7:c.8002_8003delinsTA	ENSP00000369497.3:p.Arg2668Ter
ENST00000544455.5:c.8002_8003delinsTA	ENSP00000439902.1:p.Arg2668Ter
NM_000059.3:c.8002_8003delinsTA , LRG_293t1:c.8002_8003delinsTA	NP_000050.2:p.Arg2668Ter
XM_011535203.1:c.8002_8003delinsTA	XP_011533505.1:p.Arg2668Ter
XM_011535204.1:c.7906_7907delinsTA	XP_011533506.1:p.Arg2636Ter
XM_011535205.1:c.8002_8003delinsTA	XP_011533507.1:p.Arg2668Ter
NM_000059.4:c.8002_8003delinsTA MANE Select	NP_000050.3:p.Arg2668Ter