Canonical Allele Identifier: CA10576076
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 225756
ClinVar RCV Id: RCV000210999 RCV000677827
dbSNP Id: rs869320800
MyVariant Identifiers: chr13:g.32953986_32953990del (hg19) chr13:g.32379849_32379853del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379849_32379853del , CM000675.2:g.32379849_32379853del GRCh38
NC_000013.10:g.32953986_32953990del , CM000675.1:g.32953986_32953990del GRCh37
NC_000013.9:g.31851986_31851990del NCBI36
NG_012772.3:g.69370_69374del , LRG_293:g.69370_69374del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9053_9057del ENSP00000434898.2:p.Ser3018IlefsTer2
ENST00000528762.2:c.*420_*424del ENSP00000433168.2:n.*420_*424del
ENST00000530893.7:c.8684_8688del ENSP00000499438.2:p.Ser2895IlefsTer2
ENST00000665585.2:c.*615_*619del ENSP00000499570.2:n.*615_*619del
ENST00000666593.2:c.9053_9057del ENSP00000499256.2:p.Ser3018IlefsTer2
ENST00000700202.2:c.9002_9006del ENSP00000514856.2:p.Ser3001IlefsTer2
ENST00000700202.1:c.1469_1473del ENSP00000514856.1:p.Ser490IlefsTer2
ENST00000700203.1:n.1180_1184del
ENST00000380152.8:c.9053_9057del MANE Select ENSP00000369497.3:p.Ser3018IlefsTer2
ENST00000544455.6:c.9053_9057del ENSP00000439902.1:p.Ser3018IlefsTer2
ENST00000614259.2:c.9061_9065del ENSP00000506251.1:n.9061_9065del
ENST00000665585.1:c.1931_1935del
ENST00000680887.1:c.9053_9057del ENSP00000505508.1:p.Ser3018IlefsTer2
ENST00000380152.7:c.9053_9057del ENSP00000369497.3:p.Ser3018IlefsTer2
ENST00000470094.1:c.10_14del
ENST00000544455.5:c.9053_9057del ENSP00000439902.1:p.Ser3018IlefsTer2
NM_000059.3:c.9053_9057del , LRG_293t1:c.9053_9057del NP_000050.2:p.Ser3018IlefsTer2
XM_011535203.1:c.9053_9057del XP_011533505.1:p.Ser3018IlefsTer2
XM_011535204.1:c.8957_8961del XP_011533506.1:p.Ser2986IlefsTer2
NM_000059.4:c.9053_9057del MANE Select NP_000050.3:p.Ser3018IlefsTer2
Search 100 bp 5'
Search 100 bp 3'