Canonical Allele Identifier: CA658656440

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 482994
• ClinVar RCV Id: RCV000566621
• dbSNP Id: rs1555288559
• MyVariant Identifiers: chr13:g.32954245_32954254del (hg19) ; chr13:g.32380108_32380117del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380108_32380117del , CM000675.2:g.32380108_32380117del	GRCh38
NC_000013.10:g.32954245_32954254del , CM000675.1:g.32954245_32954254del	GRCh37
NC_000013.9:g.31852245_31852254del	NCBI36
NG_012772.3:g.69629_69638del , LRG_293:g.69629_69638del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9219_9228del	ENSP00000434898.2:p.Ile3075SerfsTer5
ENST00000528762.2:c.*586_*595del	ENSP00000433168.2:n.*586_*595del
ENST00000530893.7:c.8850_8859del	ENSP00000499438.2:p.Ile2952SerfsTer5
ENST00000665585.2:c.*781_*790del	ENSP00000499570.2:n.*781_*790del
ENST00000666593.2:c.9219_9228del	ENSP00000499256.2:p.Ile3075SerfsTer5
ENST00000700202.2:c.9168_9177del	ENSP00000514856.2:p.Ile3058SerfsTer5
ENST00000700202.1:c.1635_1644del	ENSP00000514856.1:p.Ile547SerfsTer5
ENST00000700203.1:n.1346_1355del
ENST00000380152.8:c.9219_9228del MANE Select	ENSP00000369497.3:p.Ile3075SerfsTer5
ENST00000544455.6:c.9219_9228del	ENSP00000439902.1:p.Ile3075SerfsTer5
ENST00000614259.2:c.9227_9236del	ENSP00000506251.1:n.9227_9236del
ENST00000665585.1:c.2097_2106del
ENST00000666593.1:c.102_111del	ENSP00000499256.1:p.Ile36SerfsTer5
ENST00000680887.1:c.9219_9228del	ENSP00000505508.1:p.Ile3075SerfsTer5
ENST00000380152.7:c.9219_9228del	ENSP00000369497.3:p.Ile3075SerfsTer5
ENST00000470094.1:c.176_185del
ENST00000544455.5:c.9219_9228del	ENSP00000439902.1:p.Ile3075SerfsTer5
NM_000059.3:c.9219_9228del , LRG_293t1:c.9219_9228del	NP_000050.2:p.Ile3075SerfsTer5
XM_011535203.1:c.9219_9228del	XP_011533505.1:p.Ile3075SerfsTer5
XM_011535204.1:c.9123_9132del	XP_011533506.1:p.Ile3043SerfsTer5
NM_000059.4:c.9219_9228del MANE Select	NP_000050.3:p.Ile3075SerfsTer5