Canonical Allele Identifier: CA658798103

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 531206
• ClinVar RCV Id: RCV000637326
• dbSNP Id: rs1555281044

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326515_32326521delinsGAC , CM000675.2:g.32326515_32326521delinsGAC	GRCh38
NC_000013.10:g.32900652_32900658delinsGAC , CM000675.1:g.32900652_32900658delinsGAC	GRCh37
NC_000013.9:g.31798652_31798658delinsGAC	NCBI36
NG_012772.3:g.16036_16042delinsGAC , LRG_293:g.16036_16042delinsGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.533_539delinsGAC	ENSP00000434898.2:p.Lys178ArgfsTer6
ENST00000528762.2:c.533_539delinsGAC	ENSP00000433168.2:p.Lys178ArgfsTer6
ENST00000530893.7:c.164_170delinsGAC	ENSP00000499438.2:p.Lys55ArgfsTer6
ENST00000665585.2:c.533_539delinsGAC	ENSP00000499570.2:p.Lys178ArgfsTer6
ENST00000666593.2:c.533_539delinsGAC	ENSP00000499256.2:p.Lys178ArgfsTer6
ENST00000700202.2:c.533_539delinsGAC	ENSP00000514856.2:p.Lys178ArgfsTer6
ENST00000700200.1:n.404_410delinsGAC
ENST00000700201.1:c.*312_*318delinsGAC	ENSP00000514855.1:n.*312_*318delinsGAC
ENST00000380152.8:c.533_539delinsGAC MANE Select	ENSP00000369497.3:p.Lys178ArgfsTer6
ENST00000544455.6:c.533_539delinsGAC	ENSP00000439902.1:p.Lys178ArgfsTer6
ENST00000614259.2:c.533_539delinsGAC	ENSP00000506251.1:p.Lys178ArgfsTer6
ENST00000680887.1:c.533_539delinsGAC	ENSP00000505508.1:p.Lys178ArgfsTer6
ENST00000380152.7:c.533_539delinsGAC	ENSP00000369497.3:p.Lys178ArgfsTer6
ENST00000530893.6:n.731_737delinsGAC
ENST00000544455.5:c.533_539delinsGAC	ENSP00000439902.1:p.Lys178ArgfsTer6
ENST00000614259.1:n.533_539delinsGAC
NM_000059.3:c.533_539delinsGAC , LRG_293t1:c.533_539delinsGAC	NP_000050.2:p.Lys178ArgfsTer6
XM_011535203.1:c.533_539delinsGAC	XP_011533505.1:p.Lys178ArgfsTer6
XM_011535204.1:c.533_539delinsGAC	XP_011533506.1:p.Lys178ArgfsTer6
XM_011535205.1:c.533_539delinsGAC	XP_011533507.1:p.Lys178ArgfsTer6
NM_000059.4:c.533_539delinsGAC MANE Select	NP_000050.3:p.Lys178ArgfsTer6