Canonical Allele Identifier: CA350547
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 220160
ClinVar RCV Id: RCV003584567
dbSNP Id: rs864622401
MyVariant Identifiers: chr13:g.32913232_32913233dupTG (hg19) chr13:g.32339095_32339096dupTG (hg38)
PubMed: PMID:20859677 PMID:23469205 PMID:24884479 PMID:27463008
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32339095_32339096dup , CM000675.2:g.32339095_32339096dup GRCh38
NC_000013.10:g.32913232_32913233dup , CM000675.1:g.32913232_32913233dup GRCh37
NC_000013.9:g.31811232_31811233dup NCBI36
NG_012772.3:g.28616_28617dup , LRG_293:g.28616_28617dup

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.4740_4741dup ENSP00000434898.2:p.Glu1581ValfsTer?
ENST00000528762.2:c.4740_4741dup ENSP00000433168.2:p.Glu1581ValfsTer?
ENST00000530893.7:c.4371_4372dup ENSP00000499438.2:p.Glu1458ValfsTer?
ENST00000665585.2:c.4740_4741dup ENSP00000499570.2:p.Glu1581ValfsTer?
ENST00000666593.2:c.4740_4741dup ENSP00000499256.2:p.Glu1581ValfsTer?
ENST00000700202.2:c.4740_4741dup ENSP00000514856.2:p.Glu1581ValfsTer?
ENST00000380152.8:c.4740_4741dup MANE Select ENSP00000369497.3:p.Glu1581ValfsTer?
ENST00000544455.6:c.4740_4741dup ENSP00000439902.1:p.Glu1581ValfsTer?
ENST00000614259.2:c.4740_4741dup ENSP00000506251.1:p.Glu1581ValfsTer?
ENST00000680887.1:c.4740_4741dup ENSP00000505508.1:p.Glu1581ValfsTer?
ENST00000380152.7:c.4740_4741dup ENSP00000369497.3:p.Glu1581ValfsTer?
ENST00000544455.5:c.4740_4741dup ENSP00000439902.1:p.Glu1581ValfsTer?
ENST00000614259.1:n.4740_4741dup
NM_000059.3:c.4740_4741dup , LRG_293t1:c.4740_4741dup NP_000050.2:p.Glu1581ValfsTer?
XM_011535203.1:c.4740_4741dup XP_011533505.1:p.Glu1581ValfsTer?
XM_011535204.1:c.4740_4741dup XP_011533506.1:p.Glu1581ValfsTer?
XM_011535205.1:c.4740_4741dup XP_011533507.1:p.Glu1581ValfsTer?
NM_000059.4:c.4740_4741dup MANE Select NP_000050.3:p.Glu1581ValfsTer?
Search 100 bp 5'
Search 100 bp 3'