Canonical Allele Identifier: CA10589040
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 266968
ClinVar RCV Id: RCV000256576
dbSNP Id: rs886040671
MyVariant Identifiers: chr13:g.32903612_32903613del (hg19) chr13:g.32329475_32329476del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32329475_32329476del , CM000675.2:g.32329475_32329476del GRCh38
NC_000013.10:g.32903612_32903613del , CM000675.1:g.32903612_32903613del GRCh37
NC_000013.9:g.31801612_31801613del NCBI36
NG_012772.3:g.18996_18997del , LRG_293:g.18996_18997del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.664_665del ENSP00000434898.2:p.Pro222SerfsTer2
ENST00000528762.2:c.664_665del ENSP00000433168.2:p.Pro222SerfsTer2
ENST00000530893.7:c.295_296del ENSP00000499438.2:p.Pro99SerfsTer2
ENST00000665585.2:c.664_665del ENSP00000499570.2:p.Pro222SerfsTer2
ENST00000666593.2:c.664_665del ENSP00000499256.2:p.Pro222SerfsTer2
ENST00000700202.2:c.664_665del ENSP00000514856.2:p.Pro222SerfsTer2
ENST00000700201.1:c.*443_*444del ENSP00000514855.1:n.*443_*444del
ENST00000380152.8:c.664_665del MANE Select ENSP00000369497.3:p.Pro222SerfsTer2
ENST00000544455.6:c.664_665del ENSP00000439902.1:p.Pro222SerfsTer2
ENST00000614259.2:c.664_665del ENSP00000506251.1:p.Pro222SerfsTer2
ENST00000680887.1:c.664_665del ENSP00000505508.1:p.Pro222SerfsTer2
ENST00000380152.7:c.664_665del ENSP00000369497.3:p.Pro222SerfsTer2
ENST00000530893.6:n.862_863del
ENST00000544455.5:c.664_665del ENSP00000439902.1:p.Pro222SerfsTer2
ENST00000614259.1:n.664_665del
NM_000059.3:c.664_665del , LRG_293t1:c.664_665del NP_000050.2:p.Pro222SerfsTer2
XM_011535203.1:c.664_665del XP_011533505.1:p.Pro222SerfsTer2
XM_011535204.1:c.664_665del XP_011533506.1:p.Pro222SerfsTer2
XM_011535205.1:c.664_665del XP_011533507.1:p.Pro222SerfsTer2
NM_000059.4:c.664_665del MANE Select NP_000050.3:p.Pro222SerfsTer2
Search 100 bp 5'
Search 100 bp 3'