Canonical Allele Identifier: CA016290
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51337
ClinVar RCV Id: RCV001170458 RCV003352756
dbSNP Id: rs80359346
MyVariant Identifiers: chr13:g.32911252del (hg19) chr13:g.32337115del (hg38)
PubMed: PMID:12601471
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337115del , CM000675.2:g.32337115del GRCh38
NC_000013.10:g.32911252del , CM000675.1:g.32911252del GRCh37
NC_000013.9:g.31809252del NCBI36
NG_012772.3:g.26636del , LRG_293:g.26636del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.2760del ENSP00000434898.2:p.Ile921PhefsTer?
ENST00000528762.2:c.2760del ENSP00000433168.2:p.Ile921PhefsTer?
ENST00000530893.7:c.2391del ENSP00000499438.2:p.Ile798PhefsTer?
ENST00000665585.2:c.2760del ENSP00000499570.2:p.Ile921PhefsTer?
ENST00000666593.2:c.2760del ENSP00000499256.2:p.Ile921PhefsTer?
ENST00000700202.2:c.2760del ENSP00000514856.2:p.Ile921PhefsTer?
ENST00000380152.8:c.2760del MANE Select ENSP00000369497.3:p.Ile921PhefsTer?
ENST00000544455.6:c.2760del ENSP00000439902.1:p.Ile921PhefsTer?
ENST00000614259.2:c.2760del ENSP00000506251.1:p.Ile921PhefsTer?
ENST00000680887.1:c.2760del ENSP00000505508.1:p.Ile921PhefsTer?
ENST00000380152.7:c.2760del ENSP00000369497.3:p.Ile921PhefsTer?
ENST00000544455.5:c.2760del ENSP00000439902.1:p.Ile921PhefsTer?
ENST00000614259.1:n.2760del
NM_000059.3:c.2760del , LRG_293t1:c.2760del NP_000050.2:p.Ile921PhefsTer?
XM_011535203.1:c.2760del XP_011533505.1:p.Ile921PhefsTer?
XM_011535204.1:c.2760del XP_011533506.1:p.Ile921PhefsTer?
XM_011535205.1:c.2760del XP_011533507.1:p.Ile921PhefsTer?
NM_000059.4:c.2760del MANE Select NP_000050.3:p.Ile921PhefsTer?
Search 100 bp 5'
Search 100 bp 3'