Canonical Allele Identifier: CA16044340
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 375547
ClinVar RCV Id: RCV000417007 RCV000661743
dbSNP Id: rs1057519559
MyVariant Identifiers: chr13:g.32913653_32913656del (hg19) chr13:g.32339516_32339519del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32339516_32339519del , CM000675.2:g.32339516_32339519del GRCh38
NC_000013.10:g.32913653_32913656del , CM000675.1:g.32913653_32913656del GRCh37
NC_000013.9:g.31811653_31811656del NCBI36
NG_012772.3:g.29037_29040del , LRG_293:g.29037_29040del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.5161_5164del ENSP00000434898.2:p.Asn1721ValfsTer3
ENST00000528762.2:c.5161_5164del ENSP00000433168.2:p.Asn1721ValfsTer3
ENST00000530893.7:c.4792_4795del ENSP00000499438.2:p.Asn1598ValfsTer3
ENST00000665585.2:c.5161_5164del ENSP00000499570.2:p.Asn1721ValfsTer3
ENST00000666593.2:c.5161_5164del ENSP00000499256.2:p.Asn1721ValfsTer3
ENST00000700202.2:c.5161_5164del ENSP00000514856.2:p.Asn1721ValfsTer3
ENST00000380152.8:c.5161_5164del MANE Select ENSP00000369497.3:p.Asn1721ValfsTer3
ENST00000544455.6:c.5161_5164del ENSP00000439902.1:p.Asn1721ValfsTer3
ENST00000614259.2:c.5161_5164del ENSP00000506251.1:p.Asn1721ValfsTer3
ENST00000680887.1:c.5161_5164del ENSP00000505508.1:p.Asn1721ValfsTer3
ENST00000380152.7:c.5161_5164del ENSP00000369497.3:p.Asn1721ValfsTer3
ENST00000544455.5:c.5161_5164del ENSP00000439902.1:p.Asn1721ValfsTer3
ENST00000614259.1:n.5161_5164del
NM_000059.3:c.5161_5164del , LRG_293t1:c.5161_5164del NP_000050.2:p.Asn1721ValfsTer3
XM_011535203.1:c.5161_5164del XP_011533505.1:p.Asn1721ValfsTer3
XM_011535204.1:c.5161_5164del XP_011533506.1:p.Asn1721ValfsTer3
XM_011535205.1:c.5161_5164del XP_011533507.1:p.Asn1721ValfsTer3
NM_000059.4:c.5161_5164del MANE Select NP_000050.3:p.Asn1721ValfsTer3
Search 100 bp 5'
Search 100 bp 3'