Canonical Allele Identifier: CA024535
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52188
ClinVar RCV Id: RCV000045052 RCV000113085 RCV000496763 RCV000580115 RCV001705701
dbSNP Id: rs276174878
ExAC: 13:32893197 AT / A
gnomAD v2: 13-32893197-AT-A
gnomAD v3: 13-32319060-AT-A
gnomAD v4: 13-32319060-AT-A
COSMIC: COSM23930
MyVariant Identifiers: chr13:g.32893207del (hg19) chr13:g.32893198del (hg19) chr13:g.32319070del (hg38) chr13:g.32319061del (hg38)
ERepo: CA024535/MONDO:0012933/097 CA024535/MONDO:0700269/097
PubMed: PMID:17333343
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319070del , CM000675.2:g.32319070del GRCh38
NC_000013.10:g.32893207del , CM000675.1:g.32893207del GRCh37
NC_000013.9:g.31791207del NCBI36
NG_012772.3:g.8591del , LRG_293:g.8591del
NG_017006.2:g.1303del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.68-7del ENSP00000434898.2:n.68-7del
ENST00000528762.2:c.68-7del ENSP00000433168.2:n.68-7del
ENST00000530893.7:c.-302-7del ENSP00000499438.2:n.-302-7del
ENST00000665585.2:c.68-7del ENSP00000499570.2:n.68-7del
ENST00000666593.2:c.68-7del ENSP00000499256.2:n.68-7del
ENST00000700202.2:c.68-7del ENSP00000514856.2:n.68-7del
ENST00000700200.1:n.191+2543del
ENST00000700201.1:c.68-7del ENSP00000514855.1:n.68-7del
ENST00000380152.8:c.68-7del MANE Select ENSP00000369497.3:n.68-7del
ENST00000544455.6:c.68-7del ENSP00000439902.1:n.68-7del
ENST00000614259.2:c.68-7del ENSP00000506251.1:n.68-7del
ENST00000680887.1:c.68-7del ENSP00000505508.1:n.68-7del
ENST00000380152.7:c.68-7del ENSP00000369497.3:n.68-7del
ENST00000530893.6:n.266-7del
ENST00000544455.5:c.68-7del ENSP00000439902.1:n.68-7del
ENST00000614259.1:n.68-7del
NM_000059.3:c.68-7del , LRG_293t1:c.68-7del NP_000050.2:n.68-7del
XM_011535203.1:c.68-7del XP_011533505.1:n.68-7del
XM_011535204.1:c.68-7del XP_011533506.1:n.68-7del
XM_011535205.1:c.68-7del XP_011533507.1:n.68-7del
NM_000059.4:c.68-7del MANE Select NP_000050.3:n.68-7del
Search 100 bp 5'
Search 100 bp 3'