Canonical Allele Identifier: CA025901
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52714
ClinVar RCV Id: RCV000045673 RCV000077457 RCV000215485 RCV000220005 RCV002255125
dbSNP Id: rs80359734
gnomAD v4: 13-32379755-CTGAG-C
MyVariant Identifiers: chr13:g.32953894_32953897del (hg19) chr13:g.32379757_32379760del (hg38)
PubMed: PMID:12872265 PMID:22632462
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379757_32379760del , CM000675.2:g.32379757_32379760del GRCh38
NC_000013.10:g.32953894_32953897del , CM000675.1:g.32953894_32953897del GRCh37
NC_000013.9:g.31851894_31851897del NCBI36
NG_012772.3:g.69278_69281del , LRG_293:g.69278_69281del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8961_8964del ENSP00000434898.2:p.Ser2988PhefsTer12
ENST00000528762.2:c.*328_*331del ENSP00000433168.2:n.*328_*331del
ENST00000530893.7:c.8592_8595del ENSP00000499438.2:p.Ser2865PhefsTer12
ENST00000665585.2:c.*523_*526del ENSP00000499570.2:n.*523_*526del
ENST00000666593.2:c.8961_8964del ENSP00000499256.2:p.Ser2988PhefsTer12
ENST00000700202.2:c.8954-44_8954-41del ENSP00000514856.2:n.8954-44_8954-41del
ENST00000700202.1:c.1421-44_1421-41del ENSP00000514856.1:n.1421-44_1421-41del
ENST00000700203.1:n.1088_1091del
ENST00000380152.8:c.8961_8964del MANE Select ENSP00000369497.3:p.Ser2988PhefsTer12
ENST00000544455.6:c.8961_8964del ENSP00000439902.1:p.Ser2988PhefsTer12
ENST00000614259.2:c.8969_8972del ENSP00000506251.1:n.8969_8972del
ENST00000665585.1:c.1839_1842del
ENST00000680887.1:c.8961_8964del ENSP00000505508.1:p.Ser2988PhefsTer12
ENST00000380152.7:c.8961_8964del ENSP00000369497.3:p.Ser2988PhefsTer12
ENST00000544455.5:c.8961_8964del ENSP00000439902.1:p.Ser2988PhefsTer12
NM_000059.3:c.8961_8964del , LRG_293t1:c.8961_8964del NP_000050.2:p.Ser2988PhefsTer12
XM_011535203.1:c.8961_8964del XP_011533505.1:p.Ser2988PhefsTer12
XM_011535204.1:c.8865_8868del XP_011533506.1:p.Ser2956PhefsTer12
XM_011535205.1:c.8762_*2del XP_011533507.1:n.[c.8762_*2del;Ter2921TyrextTer?]
NM_000059.4:c.8961_8964del MANE Select NP_000050.3:p.Ser2988PhefsTer12
Search 100 bp 5'
Search 100 bp 3'