Canonical Allele Identifier: CA913188540

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 918986
• ClinVar RCV Id: RCV001176879
• dbSNP Id: rs2072711606

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32357912delinsGGGT , CM000675.2:g.32357912delinsGGGT	GRCh38
NC_000013.10:g.32932049delinsGGGT , CM000675.1:g.32932049delinsGGGT	GRCh37
NC_000013.9:g.31830049delinsGGGT	NCBI36
NG_012772.3:g.47433delinsGGGT , LRG_293:g.47433delinsGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7788delinsGGGT	ENSP00000434898.2:p.Gly2596_Lys2597insGly
ENST00000528762.2:c.7788delinsGGGT	ENSP00000433168.2:p.Gly2596_Lys2597insGly
ENST00000530893.7:c.7419delinsGGGT	ENSP00000499438.2:p.Gly2473_Lys2474insGly
ENST00000665585.2:c.7788delinsGGGT	ENSP00000499570.2:p.Gly2596_Lys2597insGly
ENST00000666593.2:c.7788delinsGGGT	ENSP00000499256.2:p.Gly2596_Lys2597insGly
ENST00000700202.2:c.7788delinsGGGT	ENSP00000514856.2:p.Gly2596_Lys2597insGly
ENST00000700202.1:c.255delinsGGGT	ENSP00000514856.1:p.Gly85_Lys86insGly
ENST00000380152.8:c.7788delinsGGGT MANE Select	ENSP00000369497.3:p.Gly2596_Lys2597insGly
ENST00000544455.6:c.7788delinsGGGT	ENSP00000439902.1:p.Gly2596_Lys2597insGly
ENST00000614259.2:c.7788delinsGGGT	ENSP00000506251.1:p.Gly2596_Lys2597insGly
ENST00000665585.1:c.353delinsGGGT
ENST00000680887.1:c.7788delinsGGGT	ENSP00000505508.1:p.Gly2596_Lys2597insGly
ENST00000380152.7:c.7788delinsGGGT	ENSP00000369497.3:p.Gly2596_Lys2597insGly
ENST00000544455.5:c.7788delinsGGGT	ENSP00000439902.1:p.Gly2596_Lys2597insGly
ENST00000614259.1:n.7788delinsGGGT
NM_000059.3:c.7788delinsGGGT , LRG_293t1:c.7788delinsGGGT	NP_000050.2:p.Gly2596_Lys2597insGly
XM_011535203.1:c.7788delinsGGGT	XP_011533505.1:p.Gly2596_Lys2597insGly
XM_011535204.1:c.7692delinsGGGT	XP_011533506.1:p.Gly2564_Lys2565insGly
XM_011535205.1:c.7788delinsGGGT	XP_011533507.1:p.Gly2596_Lys2597insGly
NM_000059.4:c.7788delinsGGGT MANE Select	NP_000050.3:p.Gly2596_Lys2597insGly