Canonical Allele Identifier: CA16619789

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 418091
• ClinVar RCV Id: RCV000482109 ; RCV000661715
• dbSNP Id: rs1555289518
• MyVariant Identifiers: chr13:g.32968878_32968899dup22 (hg19) ; chr13:g.32394741_32394762dup22 (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394741_32394762dup , CM000675.2:g.32394741_32394762dup	GRCh38
NC_000013.10:g.32968878_32968899dup , CM000675.1:g.32968878_32968899dup	GRCh37
NC_000013.9:g.31866878_31866899dup	NCBI36
NG_012772.3:g.84262_84283dup , LRG_293:g.84262_84283dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9309_9330dup	ENSP00000434898.2:p.Glu3111LysfsTer7
ENST00000528762.2:c.*676_*697dup	ENSP00000433168.2:n.*676_*697dup
ENST00000530893.7:c.8940_8961dup	ENSP00000499438.2:p.Glu2988LysfsTer7
ENST00000665585.2:c.*871_*892dup	ENSP00000499570.2:n.*871_*892dup
ENST00000666593.2:c.*154_*175dup	ENSP00000499256.2:n.*154_*175dup
ENST00000700202.2:c.9258_9279dup	ENSP00000514856.2:p.Glu3094LysfsTer7
ENST00000700202.1:c.1725_1746dup	ENSP00000514856.1:p.Glu583LysfsTer7
ENST00000700203.1:n.1436_1457dup
ENST00000380152.8:c.9309_9330dup MANE Select	ENSP00000369497.3:p.Glu3111LysfsTer7
ENST00000544455.6:c.9309_9330dup	ENSP00000439902.1:p.Glu3111LysfsTer7
ENST00000614259.2:c.9317_9338dup	ENSP00000506251.1:n.9317_9338dup
ENST00000665585.1:c.2187_2208dup
ENST00000666593.1:c.331_352dup	ENSP00000499256.1:n.331_352dup
ENST00000680887.1:c.9309_9330dup	ENSP00000505508.1:p.Glu3111LysfsTer7
ENST00000380152.7:c.9309_9330dup	ENSP00000369497.3:p.Glu3111LysfsTer7
ENST00000470094.1:c.266_287dup
ENST00000544455.5:c.9309_9330dup	ENSP00000439902.1:p.Glu3111LysfsTer7
NM_000059.3:c.9309_9330dup , LRG_293t1:c.9309_9330dup	NP_000050.2:p.Glu3111LysfsTer7
XM_011535203.1:c.9309_9330dup	XP_011533505.1:p.Glu3111LysfsTer7
XM_011535204.1:c.9213_9234dup	XP_011533506.1:p.Glu3079LysfsTer7
NM_000059.4:c.9309_9330dup MANE Select	NP_000050.3:p.Glu3111LysfsTer7