Canonical Allele Identifier: CA024044
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38046
ClinVar RCV Id: RCV001271045 RCV003473201
dbSNP Id: rs80359590
MyVariant Identifiers: chr13:g.32914936dupT (hg19) chr13:g.32340799dupT (hg38)
PubMed: PMID:12569143 PMID:22666503
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340799dup , CM000675.2:g.32340799dup GRCh38
NC_000013.10:g.32914936dup , CM000675.1:g.32914936dup GRCh37
NC_000013.9:g.31812936dup NCBI36
NG_012772.3:g.30320dup , LRG_293:g.30320dup

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.6444dup ENSP00000434898.2:p.Ile2149TyrfsTer2
ENST00000528762.2:c.6444dup ENSP00000433168.2:p.Ile2149TyrfsTer2
ENST00000530893.7:c.6075dup ENSP00000499438.2:p.Ile2026TyrfsTer2
ENST00000665585.2:c.6444dup ENSP00000499570.2:p.Ile2149TyrfsTer2
ENST00000666593.2:c.6444dup ENSP00000499256.2:p.Ile2149TyrfsTer2
ENST00000700202.2:c.6444dup ENSP00000514856.2:p.Ile2149TyrfsTer2
ENST00000380152.8:c.6444dup MANE Select ENSP00000369497.3:p.Ile2149TyrfsTer2
ENST00000544455.6:c.6444dup ENSP00000439902.1:p.Ile2149TyrfsTer2
ENST00000614259.2:c.6444dup ENSP00000506251.1:p.Ile2149TyrfsTer2
ENST00000680887.1:c.6444dup ENSP00000505508.1:p.Ile2149TyrfsTer2
ENST00000380152.7:c.6444dup ENSP00000369497.3:p.Ile2149TyrfsTer2
ENST00000544455.5:c.6444dup ENSP00000439902.1:p.Ile2149TyrfsTer2
ENST00000614259.1:n.6444dup
NM_000059.3:c.6444dup , LRG_293t1:c.6444dup NP_000050.2:p.Ile2149TyrfsTer2
XM_011535203.1:c.6444dup XP_011533505.1:p.Ile2149TyrfsTer2
XM_011535204.1:c.6444dup XP_011533506.1:p.Ile2149TyrfsTer2
XM_011535205.1:c.6444dup XP_011533507.1:p.Ile2149TyrfsTer2
NM_000059.4:c.6444dup MANE Select NP_000050.3:p.Ile2149TyrfsTer2
Search 100 bp 5'
Search 100 bp 3'