Canonical Allele Identifier: CA2622602748

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32398284-A-AGAGATT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398287_32398292dup , CM000675.2:g.32398287_32398292dup	GRCh38
NC_000013.10:g.32972424_32972429dup , CM000675.1:g.32972424_32972429dup	GRCh37
NC_000013.9:g.31870424_31870429dup	NCBI36
NG_012772.3:g.87808_87813dup , LRG_293:g.87808_87813dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*297_*302dup	ENSP00000434898.2:n.*297_*302dup
ENST00000528762.2:c.*1141_*1146dup	ENSP00000433168.2:n.*1141_*1146dup
ENST00000530893.7:c.9405_9410dup	ENSP00000499438.2:p.Ile3136_Asp3137insGluIle
ENST00000665585.2:c.*1336_*1341dup	ENSP00000499570.2:n.*1336_*1341dup
ENST00000700202.2:c.9723_9728dup	ENSP00000514856.2:p.Ile3242_Asp3243insGluIle
ENST00000700202.1:c.2190_2195dup	ENSP00000514856.1:p.Ile731_Asp732insGluIle
ENST00000700203.1:n.1901_1906dup
ENST00000380152.8:c.9774_9779dup MANE Select	ENSP00000369497.3:p.Ile3259_Asp3260insGluIle
ENST00000544455.6:c.9774_9779dup	ENSP00000439902.1:p.Ile3259_Asp3260insGluIle
ENST00000614259.2:c.9782_9787dup	ENSP00000506251.1:n.9782_9787dup
ENST00000680887.1:c.9774_9779dup	ENSP00000505508.1:p.Ile3259_Asp3260insGluIle
ENST00000380152.7:c.9774_9779dup	ENSP00000369497.3:p.Ile3259_Asp3260insGluIle
ENST00000533776.1:n.362_367dup
ENST00000544455.5:c.9774_9779dup	ENSP00000439902.1:p.Ile3259_Asp3260insGluIle
NM_000059.3:c.9774_9779dup , LRG_293t1:c.9774_9779dup	NP_000050.2:p.Ile3259_Asp3260insGluIle
XM_011535203.1:c.9774_9779dup	XP_011533505.1:p.Ile3259_Asp3260insGluIle
XM_011535204.1:c.9678_9683dup	XP_011533506.1:p.Ile3227_Asp3228insGluIle
NM_000059.4:c.9774_9779dup MANE Select	NP_000050.3:p.Ile3259_Asp3260insGluIle