Canonical Allele Identifier: CA2499222273

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1075331
• ClinVar RCV Id: RCV001388891
• dbSNP Id: rs2137556423

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32355008_32355015dup , CM000675.2:g.32355008_32355015dup	GRCh38
NC_000013.10:g.32929145_32929152dup , CM000675.1:g.32929145_32929152dup	GRCh37
NC_000013.9:g.31827145_31827152dup	NCBI36
NG_012772.3:g.44529_44536dup , LRG_293:g.44529_44536dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7155_7162dup	ENSP00000434898.2:p.Thr2388IlefsTer9
ENST00000528762.2:c.7155_7162dup	ENSP00000433168.2:p.Thr2388IlefsTer9
ENST00000530893.7:c.6786_6793dup	ENSP00000499438.2:p.Thr2265IlefsTer9
ENST00000665585.2:c.7155_7162dup	ENSP00000499570.2:p.Thr2388IlefsTer9
ENST00000666593.2:c.7155_7162dup	ENSP00000499256.2:p.Thr2388IlefsTer9
ENST00000700202.2:c.7155_7162dup	ENSP00000514856.2:p.Thr2388IlefsTer9
ENST00000380152.8:c.7155_7162dup MANE Select	ENSP00000369497.3:p.Thr2388IlefsTer9
ENST00000544455.6:c.7155_7162dup	ENSP00000439902.1:p.Thr2388IlefsTer9
ENST00000614259.2:c.7155_7162dup	ENSP00000506251.1:p.Thr2388IlefsTer9
ENST00000680887.1:c.7155_7162dup	ENSP00000505508.1:p.Thr2388IlefsTer9
ENST00000380152.7:c.7155_7162dup	ENSP00000369497.3:p.Thr2388IlefsTer9
ENST00000544455.5:c.7155_7162dup	ENSP00000439902.1:p.Thr2388IlefsTer9
ENST00000614259.1:n.7155_7162dup
NM_000059.3:c.7155_7162dup , LRG_293t1:c.7155_7162dup	NP_000050.2:p.Thr2388IlefsTer9
XM_011535203.1:c.7155_7162dup	XP_011533505.1:p.Thr2388IlefsTer9
XM_011535204.1:c.7059_7066dup	XP_011533506.1:p.Thr2356IlefsTer9
XM_011535205.1:c.7155_7162dup	XP_011533507.1:p.Thr2388IlefsTer9
NM_000059.4:c.7155_7162dup MANE Select	NP_000050.3:p.Thr2388IlefsTer9