Canonical Allele Identifier: CA2580087418

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2099725
• ClinVar RCV Id: RCV003021851

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362651_32362652insGCAATTTGCTAAT , CM000675.2:g.32362651_32362652insGCAATTTGCTAAT	GRCh38
NC_000013.10:g.32936788_32936789insGCAATTTGCTAAT , CM000675.1:g.32936788_32936789insGCAATTTGCTAAT	GRCh37
NC_000013.9:g.31834788_31834789insGCAATTTGCTAAT	NCBI36
NG_012772.3:g.52172_52173insGCAATTTGCTAAT , LRG_293:g.52172_52173insGCAATTTGCTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7934_7935insGCAATTTGCTAAT	ENSP00000434898.2:p.Cys2646GlnfsTer20
ENST00000528762.2:c.7934_7935insGCAATTTGCTAAT	ENSP00000433168.2:p.Cys2646GlnfsTer20
ENST00000530893.7:c.7565_7566insGCAATTTGCTAAT	ENSP00000499438.2:p.Cys2523GlnfsTer20
ENST00000665585.2:c.7934_7935insGCAATTTGCTAAT	ENSP00000499570.2:p.Cys2646GlnfsTer20
ENST00000666593.2:c.7934_7935insGCAATTTGCTAAT	ENSP00000499256.2:p.Cys2646GlnfsTer20
ENST00000700202.2:c.7934_7935insGCAATTTGCTAAT	ENSP00000514856.2:p.Cys2646GlnfsTer20
ENST00000700202.1:c.401_402insGCAATTTGCTAAT	ENSP00000514856.1:p.Cys135GlnfsTer20
ENST00000380152.8:c.7934_7935insGCAATTTGCTAAT MANE Select	ENSP00000369497.3:p.Cys2646GlnfsTer20
ENST00000544455.6:c.7934_7935insGCAATTTGCTAAT	ENSP00000439902.1:p.Cys2646GlnfsTer20
ENST00000614259.2:c.7942_7943insGCAATTTGCTAAT	ENSP00000506251.1:p.Asp2648GlyfsTer?
ENST00000665585.1:c.499_500insGCAATTTGCTAAT
ENST00000680887.1:c.7934_7935insGCAATTTGCTAAT	ENSP00000505508.1:p.Cys2646GlnfsTer20
ENST00000380152.7:c.7934_7935insGCAATTTGCTAAT	ENSP00000369497.3:p.Cys2646GlnfsTer20
ENST00000544455.5:c.7934_7935insGCAATTTGCTAAT	ENSP00000439902.1:p.Cys2646GlnfsTer20
ENST00000614259.1:n.7942_7943insGCAATTTGCTAAT
NM_000059.3:c.7934_7935insGCAATTTGCTAAT , LRG_293t1:c.7934_7935insGCAATTTGCTAAT	NP_000050.2:p.Cys2646GlnfsTer20
XM_011535203.1:c.7934_7935insGCAATTTGCTAAT	XP_011533505.1:p.Cys2646GlnfsTer20
XM_011535204.1:c.7838_7839insGCAATTTGCTAAT	XP_011533506.1:p.Cys2614GlnfsTer20
XM_011535205.1:c.7934_7935insGCAATTTGCTAAT	XP_011533507.1:p.Cys2646GlnfsTer20
NM_000059.4:c.7934_7935insGCAATTTGCTAAT MANE Select	NP_000050.3:p.Cys2646GlnfsTer20