Canonical Allele Identifier: CA025792
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52661
ClinVar RCV Id: RCV000257064 RCV001852960
dbSNP Id: rs397508003
MyVariant Identifiers: chr13:g.32950891_32950892del (hg19) chr13:g.32376754_32376755del (hg38)
PubMed: PMID:12204006
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376754_32376755del , CM000675.2:g.32376754_32376755del GRCh38
NC_000013.10:g.32950891_32950892del , CM000675.1:g.32950891_32950892del GRCh37
NC_000013.9:g.31848891_31848892del NCBI36
NG_012772.3:g.66275_66276del , LRG_293:g.66275_66276del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8717_8718del ENSP00000434898.2:p.Glu2906GlyfsTer12
ENST00000528762.2:c.*84_*85del ENSP00000433168.2:n.*84_*85del
ENST00000530893.7:c.8348_8349del ENSP00000499438.2:p.Glu2783GlyfsTer12
ENST00000665585.2:c.*279_*280del ENSP00000499570.2:n.*279_*280del
ENST00000666593.2:c.8717_8718del ENSP00000499256.2:p.Glu2906GlyfsTer12
ENST00000700202.2:c.8717_8718del ENSP00000514856.2:p.Glu2906GlyfsTer12
ENST00000700202.1:c.1184_1185del ENSP00000514856.1:p.Glu395GlyfsTer12
ENST00000700203.1:n.844_845del
ENST00000380152.8:c.8717_8718del MANE Select ENSP00000369497.3:p.Glu2906GlyfsTer12
ENST00000544455.6:c.8717_8718del ENSP00000439902.1:p.Glu2906GlyfsTer12
ENST00000614259.2:c.8725_8726del ENSP00000506251.1:n.8725_8726del
ENST00000665585.1:c.1595_1596del
ENST00000680887.1:c.8717_8718del ENSP00000505508.1:p.Glu2906GlyfsTer12
ENST00000380152.7:c.8717_8718del ENSP00000369497.3:p.Glu2906GlyfsTer12
ENST00000528762.1:c.279_280del ENSP00000433168.1:n.279_280del
ENST00000544455.5:c.8717_8718del ENSP00000439902.1:p.Glu2906GlyfsTer12
NM_000059.3:c.8717_8718del , LRG_293t1:c.8717_8718del NP_000050.2:p.Glu2906GlyfsTer12
XM_011535203.1:c.8717_8718del XP_011533505.1:p.Glu2906GlyfsTer12
XM_011535204.1:c.8621_8622del XP_011533506.1:p.Glu2874GlyfsTer12
XM_011535205.1:c.8717_8718del XP_011533507.1:p.Glu2906GlyfsTer12
NM_000059.4:c.8717_8718del MANE Select NP_000050.3:p.Glu2906GlyfsTer12
Search 100 bp 5'
Search 100 bp 3'