Canonical Allele Identifier: CA2580614702

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1765193
• ClinVar RCV Id: RCV002376184

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379505_32379510del , CM000675.2:g.32379505_32379510del	GRCh38
NC_000013.10:g.32953642_32953647del , CM000675.1:g.32953642_32953647del	GRCh37
NC_000013.9:g.31851642_31851647del	NCBI36
NG_012772.3:g.69026_69031del , LRG_293:g.69026_69031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8943_8948del	ENSP00000434898.2:p.Glu2981_Lys2982del
ENST00000528762.2:c.*310_*315del	ENSP00000433168.2:n.*310_*315del
ENST00000530893.7:c.8574_8579del	ENSP00000499438.2:p.Glu2858_Lys2859del
ENST00000665585.2:c.*505_*510del	ENSP00000499570.2:n.*505_*510del
ENST00000666593.2:c.8943_8948del	ENSP00000499256.2:p.Glu2981_Lys2982del
ENST00000700202.2:c.8943_8948del	ENSP00000514856.2:p.Glu2981_Lys2982del
ENST00000700202.1:c.1410_1415del	ENSP00000514856.1:p.Glu470_Lys471del
ENST00000700203.1:n.1070_1075del
ENST00000380152.8:c.8943_8948del MANE Select	ENSP00000369497.3:p.Glu2981_Lys2982del
ENST00000544455.6:c.8943_8948del	ENSP00000439902.1:p.Glu2981_Lys2982del
ENST00000614259.2:c.8951_8956del	ENSP00000506251.1:n.8951_8956del
ENST00000665585.1:c.1821_1826del
ENST00000680887.1:c.8943_8948del	ENSP00000505508.1:p.Glu2981_Lys2982del
ENST00000380152.7:c.8943_8948del	ENSP00000369497.3:p.Glu2981_Lys2982del
ENST00000544455.5:c.8943_8948del	ENSP00000439902.1:p.Glu2981_Lys2982del
NM_000059.3:c.8943_8948del , LRG_293t1:c.8943_8948del	NP_000050.2:p.Glu2981_Lys2982del
XM_011535203.1:c.8943_8948del	XP_011533505.1:p.Glu2981_Lys2982del
XM_011535204.1:c.8847_8852del	XP_011533506.1:p.Glu2949_Lys2950del
XM_011535205.1:c.8755-245_8755-240del	XP_011533507.1:n.8755-245_8755-240del
NM_000059.4:c.8943_8948del MANE Select	NP_000050.3:p.Glu2981_Lys2982del