Canonical Allele Identifier: CA025977
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52750
ClinVar RCV Id: RCV000577304 RCV000661447
dbSNP Id: rs397508036
MyVariant Identifiers: chr13:g.32954033dupC (hg19) chr13:g.32379896dupC (hg38)
PubMed: PMID:16939956
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379896dup , CM000675.2:g.32379896dup GRCh38
NC_000013.10:g.32954033dup , CM000675.1:g.32954033dup GRCh37
NC_000013.9:g.31852033dup NCBI36
NG_012772.3:g.69417dup , LRG_293:g.69417dup

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9100dup ENSP00000434898.2:p.Gln3034ProfsTer10
ENST00000528762.2:c.*467dup ENSP00000433168.2:n.*467dup
ENST00000530893.7:c.8731dup ENSP00000499438.2:p.Gln2911ProfsTer10
ENST00000665585.2:c.*662dup ENSP00000499570.2:n.*662dup
ENST00000666593.2:c.9100dup ENSP00000499256.2:p.Gln3034ProfsTer10
ENST00000700202.2:c.9049dup ENSP00000514856.2:p.Gln3017ProfsTer10
ENST00000700202.1:c.1516dup ENSP00000514856.1:p.Gln506ProfsTer10
ENST00000700203.1:n.1227dup
ENST00000380152.8:c.9100dup MANE Select ENSP00000369497.3:p.Gln3034ProfsTer10
ENST00000544455.6:c.9100dup ENSP00000439902.1:p.Gln3034ProfsTer10
ENST00000614259.2:c.9108dup ENSP00000506251.1:n.9108dup
ENST00000665585.1:c.1978dup
ENST00000680887.1:c.9100dup ENSP00000505508.1:p.Gln3034ProfsTer10
ENST00000380152.7:c.9100dup ENSP00000369497.3:p.Gln3034ProfsTer10
ENST00000470094.1:c.57dup
ENST00000544455.5:c.9100dup ENSP00000439902.1:p.Gln3034ProfsTer10
NM_000059.3:c.9100dup , LRG_293t1:c.9100dup NP_000050.2:p.Gln3034ProfsTer10
XM_011535203.1:c.9100dup XP_011533505.1:p.Gln3034ProfsTer10
XM_011535204.1:c.9004dup XP_011533506.1:p.Gln3002ProfsTer10
NM_000059.4:c.9100dup MANE Select NP_000050.3:p.Gln3034ProfsTer10
Search 100 bp 5'
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