Canonical Allele Identifier: CA919242476

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566224499

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333325_32333326del , CM000675.2:g.32333325_32333326del	GRCh38
NC_000013.10:g.32907462_32907463del , CM000675.1:g.32907462_32907463del	GRCh37
NC_000013.9:g.31805462_31805463del	NCBI36
NG_012772.3:g.22846_22847del , LRG_293:g.22846_22847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1847_1848del	ENSP00000434898.2:p.Cys616PhefsTer5
ENST00000528762.2:c.1847_1848del	ENSP00000433168.2:p.Cys616PhefsTer5
ENST00000530893.7:c.1478_1479del	ENSP00000499438.2:p.Cys493PhefsTer5
ENST00000665585.2:c.1847_1848del	ENSP00000499570.2:p.Cys616PhefsTer5
ENST00000666593.2:c.1847_1848del	ENSP00000499256.2:p.Cys616PhefsTer5
ENST00000700202.2:c.1847_1848del	ENSP00000514856.2:p.Cys616PhefsTer5
ENST00000380152.8:c.1847_1848del MANE Select	ENSP00000369497.3:p.Cys616PhefsTer5
ENST00000544455.6:c.1847_1848del	ENSP00000439902.1:p.Cys616PhefsTer5
ENST00000614259.2:c.1847_1848del	ENSP00000506251.1:p.Cys616PhefsTer5
ENST00000680887.1:c.1847_1848del	ENSP00000505508.1:p.Cys616PhefsTer5
ENST00000380152.7:c.1847_1848del	ENSP00000369497.3:p.Cys616PhefsTer5
ENST00000544455.5:c.1847_1848del	ENSP00000439902.1:p.Cys616PhefsTer5
ENST00000614259.1:n.1847_1848del
NM_000059.3:c.1847_1848del , LRG_293t1:c.1847_1848del	NP_000050.2:p.Cys616PhefsTer5
XM_011535203.1:c.1847_1848del	XP_011533505.1:p.Cys616PhefsTer5
XM_011535204.1:c.1847_1848del	XP_011533506.1:p.Cys616PhefsTer5
XM_011535205.1:c.1847_1848del	XP_011533507.1:p.Cys616PhefsTer5
NM_000059.4:c.1847_1848del MANE Select	NP_000050.3:p.Cys616PhefsTer5