Canonical Allele Identifier: CA016474
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51352
ClinVar RCV Id: RCV002433531
dbSNP Id: rs80359354
MyVariant Identifiers: chr13:g.32911304_32911307del (hg19) chr13:g.32337167_32337170del (hg38)
PubMed: PMID:17972177
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337167_32337170del , CM000675.2:g.32337167_32337170del GRCh38
NC_000013.10:g.32911304_32911307del , CM000675.1:g.32911304_32911307del GRCh37
NC_000013.9:g.31809304_31809307del NCBI36
NG_012772.3:g.26688_26691del , LRG_293:g.26688_26691del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.2812_2815del ENSP00000434898.2:p.Ala938ProfsTer21
ENST00000528762.2:c.2812_2815del ENSP00000433168.2:p.Ala938ProfsTer21
ENST00000530893.7:c.2443_2446del ENSP00000499438.2:p.Ala815ProfsTer21
ENST00000665585.2:c.2812_2815del ENSP00000499570.2:p.Ala938ProfsTer21
ENST00000666593.2:c.2812_2815del ENSP00000499256.2:p.Ala938ProfsTer21
ENST00000700202.2:c.2812_2815del ENSP00000514856.2:p.Ala938ProfsTer21
ENST00000380152.8:c.2812_2815del MANE Select ENSP00000369497.3:p.Ala938ProfsTer21
ENST00000544455.6:c.2812_2815del ENSP00000439902.1:p.Ala938ProfsTer21
ENST00000614259.2:c.2812_2815del ENSP00000506251.1:p.Ala938ProfsTer21
ENST00000680887.1:c.2812_2815del ENSP00000505508.1:p.Ala938ProfsTer21
ENST00000380152.7:c.2812_2815del ENSP00000369497.3:p.Ala938ProfsTer21
ENST00000544455.5:c.2812_2815del ENSP00000439902.1:p.Ala938ProfsTer21
ENST00000614259.1:n.2812_2815del
NM_000059.3:c.2812_2815del , LRG_293t1:c.2812_2815del NP_000050.2:p.Ala938ProfsTer21
XM_011535203.1:c.2812_2815del XP_011533505.1:p.Ala938ProfsTer21
XM_011535204.1:c.2812_2815del XP_011533506.1:p.Ala938ProfsTer21
XM_011535205.1:c.2812_2815del XP_011533507.1:p.Ala938ProfsTer21
NM_000059.4:c.2812_2815del MANE Select NP_000050.3:p.Ala938ProfsTer21
Search 100 bp 5'
Search 100 bp 3'