Canonical Allele Identifier: CA025236
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52390
ClinVar RCV Id: RCV002514209
dbSNP Id: rs397507934
ExAC: 13:32931957 G / GA
gnomAD v3: 13-32357820-G-GA
gnomAD v4: 13-32357820-G-GA
MyVariant Identifiers: chr13:g.32931958dupA (hg19) chr13:g.32931957_32931958insA (hg19) chr13:g.32357821dupA (hg38) chr13:g.32357820_32357821insA (hg38)
PubMed: PMID:22921312
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32357821dup , CM000675.2:g.32357821dup GRCh38
NC_000013.10:g.32931958dup , CM000675.1:g.32931958dup GRCh37
NC_000013.9:g.31829958dup NCBI36
NG_012772.3:g.47342dup , LRG_293:g.47342dup

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7697dup ENSP00000434898.2:p.Asp2566GlufsTer5
ENST00000528762.2:c.7697dup ENSP00000433168.2:p.Asp2566GlufsTer5
ENST00000530893.7:c.7328dup ENSP00000499438.2:p.Asp2443GlufsTer5
ENST00000665585.2:c.7697dup ENSP00000499570.2:p.Asp2566GlufsTer5
ENST00000666593.2:c.7697dup ENSP00000499256.2:p.Asp2566GlufsTer5
ENST00000700202.2:c.7697dup ENSP00000514856.2:p.Asp2566GlufsTer5
ENST00000700202.1:c.164dup ENSP00000514856.1:p.Asp55GlufsTer5
ENST00000380152.8:c.7697dup MANE Select ENSP00000369497.3:p.Asp2566GlufsTer5
ENST00000544455.6:c.7697dup ENSP00000439902.1:p.Asp2566GlufsTer5
ENST00000614259.2:c.7697dup ENSP00000506251.1:p.Asp2566GlufsTer5
ENST00000665585.1:c.262dup
ENST00000680887.1:c.7697dup ENSP00000505508.1:p.Asp2566GlufsTer5
ENST00000380152.7:c.7697dup ENSP00000369497.3:p.Asp2566GlufsTer5
ENST00000544455.5:c.7697dup ENSP00000439902.1:p.Asp2566GlufsTer5
ENST00000614259.1:n.7697dup
NM_000059.3:c.7697dup , LRG_293t1:c.7697dup NP_000050.2:p.Asp2566GlufsTer5
XM_011535203.1:c.7697dup XP_011533505.1:p.Asp2566GlufsTer5
XM_011535204.1:c.7601dup XP_011533506.1:p.Asp2534GlufsTer5
XM_011535205.1:c.7697dup XP_011533507.1:p.Asp2566GlufsTer5
NM_000059.4:c.7697dup MANE Select NP_000050.3:p.Asp2566GlufsTer5
Search 100 bp 5'
Search 100 bp 3'