Canonical Allele Identifier: CA025712
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38168
ClinVar RCV Id: RCV000031751 RCV000034464 RCV000131022 RCV000152885 RCV000167825 RCV000371112 RCV000735613
dbSNP Id: rs11571747
ExAC: 13:32945172 A / C
gnomAD v2: 13-32945172-A-C
gnomAD v3: 13-32371035-A-C
gnomAD v4: 13-32371035-A-C
MyVariant Identifiers: chr13:g.32945172A>C (hg19) chr13:g.32371035A>C (hg38)
PubMed: PMID:1990134 PMID:10699917 PMID:10717622 PMID:10923033 PMID:12474142 PMID:15026808 PMID:16489001 PMID:17341484 PMID:17899372 PMID:18312450 PMID:18559594 PMID:18607349 PMID:18824701 PMID:19043619 PMID:20104584 PMID:21520273 PMID:21702907 PMID:21952622 PMID:21990134 PMID:22703879 PMID:23108138 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371035A>C , CM000675.2:g.32371035A>C GRCh38
NC_000013.10:g.32945172A>C , CM000675.1:g.32945172A>C GRCh37
NC_000013.9:g.31843172A>C NCBI36
NG_012772.3:g.60556A>C , LRG_293:g.60556A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8567A>C ENSP00000434898.2:p.Glu2856Ala
ENST00000528762.2:c.8567A>C ENSP00000433168.2:p.Glu2856Ala
ENST00000530893.7:c.8198A>C ENSP00000499438.2:p.Glu2733Ala
ENST00000665585.2:c.8567A>C ENSP00000499570.2:p.Glu2856Ala
ENST00000666593.2:c.8567A>C ENSP00000499256.2:p.Glu2856Ala
ENST00000700202.2:c.8567A>C ENSP00000514856.2:p.Glu2856Ala
ENST00000700202.1:c.1034A>C ENSP00000514856.1:p.Glu345Ala
ENST00000380152.8:c.8567A>C MANE Select ENSP00000369497.3:p.Glu2856Ala
ENST00000544455.6:c.8567A>C ENSP00000439902.1:p.Glu2856Ala
ENST00000614259.2:c.8575A>C ENSP00000506251.1:n.8575A>C
ENST00000665585.1:c.1132A>C
ENST00000680887.1:c.8567A>C ENSP00000505508.1:p.Glu2856Ala
ENST00000380152.7:c.8567A>C ENSP00000369497.3:p.Glu2856Ala
ENST00000528762.1:c.65A>C ENSP00000433168.1:p.Glu22Ala
ENST00000544455.5:c.8567A>C ENSP00000439902.1:p.Glu2856Ala
NM_000059.3:c.8567A>C , LRG_293t1:c.8567A>C NP_000050.2:p.Glu2856Ala
XM_011535203.1:c.8567A>C XP_011533505.1:p.Glu2856Ala
XM_011535204.1:c.8471A>C XP_011533506.1:p.Glu2824Ala
XM_011535205.1:c.8567A>C XP_011533507.1:p.Glu2856Ala
NM_000059.4:c.8567A>C MANE Select NP_000050.3:p.Glu2856Ala
Search 100 bp 5'
Search 100 bp 3'