Canonical Allele Identifier: CA2739277524

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2859703
• ClinVar RCV Id: RCV003644645

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379434_32379442del , CM000675.2:g.32379434_32379442del	GRCh38
NC_000013.10:g.32953571_32953579del , CM000675.1:g.32953571_32953579del	GRCh37
NC_000013.9:g.31851571_31851579del	NCBI36
NG_012772.3:g.68955_68963del , LRG_293:g.68955_68963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8872_8880del	ENSP00000434898.2:p.Lys2958_Gln2960del
ENST00000528762.2:c.*239_*247del	ENSP00000433168.2:n.*239_*247del
ENST00000530893.7:c.8503_8511del	ENSP00000499438.2:p.Lys2835_Gln2837del
ENST00000665585.2:c.*434_*442del	ENSP00000499570.2:n.*434_*442del
ENST00000666593.2:c.8872_8880del	ENSP00000499256.2:p.Lys2958_Gln2960del
ENST00000700202.2:c.8872_8880del	ENSP00000514856.2:p.Lys2958_Gln2960del
ENST00000700202.1:c.1339_1347del	ENSP00000514856.1:p.Lys447_Gln449del
ENST00000700203.1:n.999_1007del
ENST00000380152.8:c.8872_8880del MANE Select	ENSP00000369497.3:p.Lys2958_Gln2960del
ENST00000544455.6:c.8872_8880del	ENSP00000439902.1:p.Lys2958_Gln2960del
ENST00000614259.2:c.8880_8888del	ENSP00000506251.1:n.8880_8888del
ENST00000665585.1:c.1750_1758del
ENST00000680887.1:c.8872_8880del	ENSP00000505508.1:p.Lys2958_Gln2960del
ENST00000380152.7:c.8872_8880del	ENSP00000369497.3:p.Lys2958_Gln2960del
ENST00000528762.1:c.434_442del	ENSP00000433168.1:n.434_442del
ENST00000544455.5:c.8872_8880del	ENSP00000439902.1:p.Lys2958_Gln2960del
NM_000059.3:c.8872_8880del , LRG_293t1:c.8872_8880del	NP_000050.2:p.Lys2958_Gln2960del
XM_011535203.1:c.8872_8880del	XP_011533505.1:p.Lys2958_Gln2960del
XM_011535204.1:c.8776_8784del	XP_011533506.1:p.Lys2926_Gln2928del
XM_011535205.1:c.8755-316_8755-308del	XP_011533507.1:n.8755-316_8755-308del
NM_000059.4:c.8872_8880del MANE Select	NP_000050.3:p.Lys2958_Gln2960del