Canonical Allele Identifier: CA023278
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51946
ClinVar RCV Id: RCV000577301 RCV000661432
dbSNP Id: rs397507808
MyVariant Identifiers: chr13:g.32914321_32914322del (hg19) chr13:g.32340184_32340185del (hg38)
PubMed: PMID:16047344
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340184_32340185del , CM000675.2:g.32340184_32340185del GRCh38
NC_000013.10:g.32914321_32914322del , CM000675.1:g.32914321_32914322del GRCh37
NC_000013.9:g.31812321_31812322del NCBI36
NG_012772.3:g.29705_29706del , LRG_293:g.29705_29706del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.5829_5830del ENSP00000434898.2:p.Lys1944AsnfsTer5
ENST00000528762.2:c.5829_5830del ENSP00000433168.2:p.Lys1944AsnfsTer5
ENST00000530893.7:c.5460_5461del ENSP00000499438.2:p.Lys1821AsnfsTer5
ENST00000665585.2:c.5829_5830del ENSP00000499570.2:p.Lys1944AsnfsTer5
ENST00000666593.2:c.5829_5830del ENSP00000499256.2:p.Lys1944AsnfsTer5
ENST00000700202.2:c.5829_5830del ENSP00000514856.2:p.Lys1944AsnfsTer5
ENST00000380152.8:c.5829_5830del MANE Select ENSP00000369497.3:p.Lys1944AsnfsTer5
ENST00000544455.6:c.5829_5830del ENSP00000439902.1:p.Lys1944AsnfsTer5
ENST00000614259.2:c.5829_5830del ENSP00000506251.1:p.Lys1944AsnfsTer5
ENST00000680887.1:c.5829_5830del ENSP00000505508.1:p.Lys1944AsnfsTer5
ENST00000380152.7:c.5829_5830del ENSP00000369497.3:p.Lys1944AsnfsTer5
ENST00000544455.5:c.5829_5830del ENSP00000439902.1:p.Lys1944AsnfsTer5
ENST00000614259.1:n.5829_5830del
NM_000059.3:c.5829_5830del , LRG_293t1:c.5829_5830del NP_000050.2:p.Lys1944AsnfsTer5
XM_011535203.1:c.5829_5830del XP_011533505.1:p.Lys1944AsnfsTer5
XM_011535204.1:c.5829_5830del XP_011533506.1:p.Lys1944AsnfsTer5
XM_011535205.1:c.5829_5830del XP_011533507.1:p.Lys1944AsnfsTer5
NM_000059.4:c.5829_5830del MANE Select NP_000050.3:p.Lys1944AsnfsTer5
Search 100 bp 5'
Search 100 bp 3'