Canonical Allele Identifier: CA020195
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 37904
ClinVar RCV Id: RCV000031485 RCV000163360 RCV000412671 RCV000496426 RCV000785220
dbSNP Id: rs80359448
gnomAD v4: 13-32338803-CA-C
MyVariant Identifiers: chr13:g.32912941del (hg19) chr13:g.32338804del (hg38)
PubMed: PMID:11802209 PMID:15744030 PMID:20104584 PMID:25111659 PMID:26295337
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338804del , CM000675.2:g.32338804del GRCh38
NC_000013.10:g.32912941del , CM000675.1:g.32912941del GRCh37
NC_000013.9:g.31810941del NCBI36
NG_012772.3:g.28325del , LRG_293:g.28325del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.4449del ENSP00000434898.2:p.Asp1484ThrfsTer2
ENST00000528762.2:c.4449del ENSP00000433168.2:p.Asp1484ThrfsTer2
ENST00000530893.7:c.4080del ENSP00000499438.2:p.Asp1361ThrfsTer2
ENST00000665585.2:c.4449del ENSP00000499570.2:p.Asp1484ThrfsTer2
ENST00000666593.2:c.4449del ENSP00000499256.2:p.Asp1484ThrfsTer2
ENST00000700202.2:c.4449del ENSP00000514856.2:p.Asp1484ThrfsTer2
ENST00000380152.8:c.4449del MANE Select ENSP00000369497.3:p.Asp1484ThrfsTer2
ENST00000544455.6:c.4449del ENSP00000439902.1:p.Asp1484ThrfsTer2
ENST00000614259.2:c.4449del ENSP00000506251.1:p.Asp1484ThrfsTer2
ENST00000680887.1:c.4449del ENSP00000505508.1:p.Asp1484ThrfsTer2
ENST00000380152.7:c.4449del ENSP00000369497.3:p.Asp1484ThrfsTer2
ENST00000544455.5:c.4449del ENSP00000439902.1:p.Asp1484ThrfsTer2
ENST00000614259.1:n.4449del
NM_000059.3:c.4449del , LRG_293t1:c.4449del NP_000050.2:p.Asp1484ThrfsTer2
XM_011535203.1:c.4449del XP_011533505.1:p.Asp1484ThrfsTer2
XM_011535204.1:c.4449del XP_011533506.1:p.Asp1484ThrfsTer2
XM_011535205.1:c.4449del XP_011533507.1:p.Asp1484ThrfsTer2
NM_000059.4:c.4449del MANE Select NP_000050.3:p.Asp1484ThrfsTer2
Search 100 bp 5'
Search 100 bp 3'