Canonical Allele Identifier: CA024983

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 126132
• ClinVar RCV Id: RCV000113735
• dbSNP Id: rs483353118
• MyVariant Identifiers: chr13:g.32929225_32929226insG (hg19) ; chr13:g.32355088_32355089insG (hg38)
• PubMed: PMID:22425665 ; PMID:23697973

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32355088_32355089insG , CM000675.2:g.32355088_32355089insG	GRCh38
NC_000013.10:g.32929225_32929226insG , CM000675.1:g.32929225_32929226insG	GRCh37
NC_000013.9:g.31827225_31827226insG	NCBI36
NG_012772.3:g.44609_44610insG , LRG_293:g.44609_44610insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7235_7236insG	ENSP00000434898.2:p.Lys2413Ter
ENST00000528762.2:c.7235_7236insG	ENSP00000433168.2:p.Lys2413Ter
ENST00000530893.7:c.6866_6867insG	ENSP00000499438.2:p.Lys2290Ter
ENST00000665585.2:c.7235_7236insG	ENSP00000499570.2:p.Lys2413Ter
ENST00000666593.2:c.7235_7236insG	ENSP00000499256.2:p.Lys2413Ter
ENST00000700202.2:c.7235_7236insG	ENSP00000514856.2:p.Lys2413Ter
ENST00000380152.8:c.7235_7236insG MANE Select	ENSP00000369497.3:p.Lys2413Ter
ENST00000544455.6:c.7235_7236insG	ENSP00000439902.1:p.Lys2413Ter
ENST00000614259.2:c.7235_7236insG	ENSP00000506251.1:p.Lys2413Ter
ENST00000680887.1:c.7235_7236insG	ENSP00000505508.1:p.Lys2413Ter
ENST00000380152.7:c.7235_7236insG	ENSP00000369497.3:p.Lys2413Ter
ENST00000544455.5:c.7235_7236insG	ENSP00000439902.1:p.Lys2413Ter
ENST00000614259.1:n.7235_7236insG
NM_000059.3:c.7235_7236insG , LRG_293t1:c.7235_7236insG	NP_000050.2:p.Lys2413Ter
XM_011535203.1:c.7235_7236insG	XP_011533505.1:p.Lys2413Ter
XM_011535204.1:c.7139_7140insG	XP_011533506.1:p.Lys2381Ter
XM_011535205.1:c.7235_7236insG	XP_011533507.1:p.Lys2413Ter
NM_000059.4:c.7235_7236insG MANE Select	NP_000050.3:p.Lys2413Ter