Canonical Allele Identifier: CA025933
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38204
ClinVar RCV Id: RCV001798056 RCV003460533
dbSNP Id: rs80359741
gnomAD v2: 13-32953957-TTATCA-T
gnomAD v4: 13-32379820-TTATCA-T
MyVariant Identifiers: chr13:g.32953959_32953963del (hg19) chr13:g.32953958_32953962del (hg19) chr13:g.32379822_32379826del (hg38) chr13:g.32379821_32379825del (hg38)
PubMed: PMID:8589730 PMID:21735045 PMID:22144684 PMID:22632462 PMID:23479189 PMID:23683081 PMID:24123850 PMID:24123859 PMID:26026974 PMID:26295337
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379822_32379826del , CM000675.2:g.32379822_32379826del GRCh38
NC_000013.10:g.32953959_32953963del , CM000675.1:g.32953959_32953963del GRCh37
NC_000013.9:g.31851959_31851963del NCBI36
NG_012772.3:g.69343_69347del , LRG_293:g.69343_69347del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9026_9030del ENSP00000434898.2:p.Tyr3009SerfsTer7
ENST00000528762.2:c.*393_*397del ENSP00000433168.2:n.*393_*397del
ENST00000530893.7:c.8657_8661del ENSP00000499438.2:p.Tyr2886SerfsTer7
ENST00000665585.2:c.*588_*592del ENSP00000499570.2:n.*588_*592del
ENST00000666593.2:c.9026_9030del ENSP00000499256.2:p.Tyr3009SerfsTer7
ENST00000700202.2:c.8975_8979del ENSP00000514856.2:p.Tyr2992SerfsTer7
ENST00000700202.1:c.1442_1446del ENSP00000514856.1:p.Tyr481SerfsTer7
ENST00000700203.1:n.1153_1157del
ENST00000380152.8:c.9026_9030del MANE Select ENSP00000369497.3:p.Tyr3009SerfsTer7
ENST00000544455.6:c.9026_9030del ENSP00000439902.1:p.Tyr3009SerfsTer7
ENST00000614259.2:c.9034_9038del ENSP00000506251.1:n.9034_9038del
ENST00000665585.1:c.1904_1908del
ENST00000680887.1:c.9026_9030del ENSP00000505508.1:p.Tyr3009SerfsTer7
ENST00000380152.7:c.9026_9030del ENSP00000369497.3:p.Tyr3009SerfsTer7
ENST00000544455.5:c.9026_9030del ENSP00000439902.1:p.Tyr3009SerfsTer7
NM_000059.3:c.9026_9030del , LRG_293t1:c.9026_9030del NP_000050.2:p.Tyr3009SerfsTer7
XM_011535203.1:c.9026_9030del XP_011533505.1:p.Tyr3009SerfsTer7
XM_011535204.1:c.8930_8934del XP_011533506.1:p.Tyr2977SerfsTer7
XM_011535205.1:c.*64_*68del XP_011533507.1:n.*64_*68del
NM_000059.4:c.9026_9030del MANE Select NP_000050.3:p.Tyr3009SerfsTer7
Search 100 bp 5'
Search 100 bp 3'