Canonical Allele Identifier: CA10579602
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 232764
ClinVar RCV Id: RCV000214720 RCV000661429 RCV001042197
dbSNP Id: rs876659977
gnomAD v4: 13-32338531-T-TG
MyVariant Identifiers: chr13:g.32912669dupG (hg19) chr13:g.32338532dupG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338532dup , CM000675.2:g.32338532dup GRCh38
NC_000013.10:g.32912669dup , CM000675.1:g.32912669dup GRCh37
NC_000013.9:g.31810669dup NCBI36
NG_012772.3:g.28053dup , LRG_293:g.28053dup

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.4177dup ENSP00000434898.2:p.Ala1393GlyfsTer10
ENST00000528762.2:c.4177dup ENSP00000433168.2:p.Ala1393GlyfsTer10
ENST00000530893.7:c.3808dup ENSP00000499438.2:p.Ala1270GlyfsTer10
ENST00000665585.2:c.4177dup ENSP00000499570.2:p.Ala1393GlyfsTer10
ENST00000666593.2:c.4177dup ENSP00000499256.2:p.Ala1393GlyfsTer10
ENST00000700202.2:c.4177dup ENSP00000514856.2:p.Ala1393GlyfsTer10
ENST00000380152.8:c.4177dup MANE Select ENSP00000369497.3:p.Ala1393GlyfsTer10
ENST00000544455.6:c.4177dup ENSP00000439902.1:p.Ala1393GlyfsTer10
ENST00000614259.2:c.4177dup ENSP00000506251.1:p.Ala1393GlyfsTer10
ENST00000680887.1:c.4177dup ENSP00000505508.1:p.Ala1393GlyfsTer10
ENST00000380152.7:c.4177dup ENSP00000369497.3:p.Ala1393GlyfsTer10
ENST00000544455.5:c.4177dup ENSP00000439902.1:p.Ala1393GlyfsTer10
ENST00000614259.1:n.4177dup
NM_000059.3:c.4177dup , LRG_293t1:c.4177dup NP_000050.2:p.Ala1393GlyfsTer10
XM_011535203.1:c.4177dup XP_011533505.1:p.Ala1393GlyfsTer10
XM_011535204.1:c.4177dup XP_011533506.1:p.Ala1393GlyfsTer10
XM_011535205.1:c.4177dup XP_011533507.1:p.Ala1393GlyfsTer10
NM_000059.4:c.4177dup MANE Select NP_000050.3:p.Ala1393GlyfsTer10
Search 100 bp 5'
Search 100 bp 3'