Canonical Allele Identifier: CA916080528

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 861777
• ClinVar RCV Id: RCV001068365
• dbSNP Id: rs2072829618

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371029_32371036dup , CM000675.2:g.32371029_32371036dup	GRCh38
NC_000013.10:g.32945166_32945173dup , CM000675.1:g.32945166_32945173dup	GRCh37
NC_000013.9:g.31843166_31843173dup	NCBI36
NG_012772.3:g.60550_60557dup , LRG_293:g.60550_60557dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8561_8568dup	ENSP00000434898.2:p.Ala2857MetfsTer9
ENST00000528762.2:c.8561_8568dup	ENSP00000433168.2:p.Ala2857MetfsTer9
ENST00000530893.7:c.8192_8199dup	ENSP00000499438.2:p.Ala2734MetfsTer9
ENST00000665585.2:c.8561_8568dup	ENSP00000499570.2:p.Ala2857MetfsTer9
ENST00000666593.2:c.8561_8568dup	ENSP00000499256.2:p.Ala2857MetfsTer9
ENST00000700202.2:c.8561_8568dup	ENSP00000514856.2:p.Ala2857MetfsTer9
ENST00000700202.1:c.1028_1035dup	ENSP00000514856.1:p.Ala346MetfsTer9
ENST00000380152.8:c.8561_8568dup MANE Select	ENSP00000369497.3:p.Ala2857MetfsTer9
ENST00000544455.6:c.8561_8568dup	ENSP00000439902.1:p.Ala2857MetfsTer9
ENST00000614259.2:c.8569_8576dup	ENSP00000506251.1:n.8569_8576dup
ENST00000665585.1:c.1126_1133dup
ENST00000680887.1:c.8561_8568dup	ENSP00000505508.1:p.Ala2857MetfsTer9
ENST00000380152.7:c.8561_8568dup	ENSP00000369497.3:p.Ala2857MetfsTer9
ENST00000528762.1:c.59_66dup	ENSP00000433168.1:p.Ala23MetfsTer9
ENST00000544455.5:c.8561_8568dup	ENSP00000439902.1:p.Ala2857MetfsTer9
NM_000059.3:c.8561_8568dup , LRG_293t1:c.8561_8568dup	NP_000050.2:p.Ala2857MetfsTer9
XM_011535203.1:c.8561_8568dup	XP_011533505.1:p.Ala2857MetfsTer9
XM_011535204.1:c.8465_8472dup	XP_011533506.1:p.Ala2825MetfsTer9
XM_011535205.1:c.8561_8568dup	XP_011533507.1:p.Ala2857MetfsTer9
NM_000059.4:c.8561_8568dup MANE Select	NP_000050.3:p.Ala2857MetfsTer9