Canonical Allele Identifier: CA2580087454

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2126869
• ClinVar RCV Id: RCV003047502 ; RCV003294396

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379318_32379320dup , CM000675.2:g.32379318_32379320dup	GRCh38
NC_000013.10:g.32953455_32953457dup , CM000675.1:g.32953455_32953457dup	GRCh37
NC_000013.9:g.31851455_31851457dup	NCBI36
NG_012772.3:g.68839_68841dup , LRG_293:g.68839_68841dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8756_8758dup	ENSP00000434898.2:p.Gly2919_Tyr2920insCys
ENST00000528762.2:c.*123_*125dup	ENSP00000433168.2:n.*123_*125dup
ENST00000530893.7:c.8387_8389dup	ENSP00000499438.2:p.Gly2796_Tyr2797insCys
ENST00000665585.2:c.*318_*320dup	ENSP00000499570.2:n.*318_*320dup
ENST00000666593.2:c.8756_8758dup	ENSP00000499256.2:p.Gly2919_Tyr2920insCys
ENST00000700202.2:c.8756_8758dup	ENSP00000514856.2:p.Gly2919_Tyr2920insCys
ENST00000700202.1:c.1223_1225dup	ENSP00000514856.1:p.Gly408_Tyr409insCys
ENST00000700203.1:n.883_885dup
ENST00000380152.8:c.8756_8758dup MANE Select	ENSP00000369497.3:p.Gly2919_Tyr2920insCys
ENST00000544455.6:c.8756_8758dup	ENSP00000439902.1:p.Gly2919_Tyr2920insCys
ENST00000614259.2:c.8764_8766dup	ENSP00000506251.1:n.8764_8766dup
ENST00000665585.1:c.1634_1636dup
ENST00000680887.1:c.8756_8758dup	ENSP00000505508.1:p.Gly2919_Tyr2920insCys
ENST00000380152.7:c.8756_8758dup	ENSP00000369497.3:p.Gly2919_Tyr2920insCys
ENST00000528762.1:c.318_320dup	ENSP00000433168.1:n.318_320dup
ENST00000544455.5:c.8756_8758dup	ENSP00000439902.1:p.Gly2919_Tyr2920insCys
NM_000059.3:c.8756_8758dup , LRG_293t1:c.8756_8758dup	NP_000050.2:p.Gly2919_Tyr2920insCys
XM_011535203.1:c.8756_8758dup	XP_011533505.1:p.Gly2919_Tyr2920insCys
XM_011535204.1:c.8660_8662dup	XP_011533506.1:p.Gly2887_Tyr2888insCys
XM_011535205.1:c.8755-432_8755-430dup	XP_011533507.1:n.8755-432_8755-430dup
NM_000059.4:c.8756_8758dup MANE Select	NP_000050.3:p.Gly2919_Tyr2920insCys