Canonical Allele Identifier: CA10589172
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 266720
ClinVar RCV Id: RCV000257441
dbSNP Id: rs886040446
MyVariant Identifiers: chr13:g.32911256_32911269del (hg19) chr13:g.32337119_32337132del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337119_32337132del , CM000675.2:g.32337119_32337132del GRCh38
NC_000013.10:g.32911256_32911269del , CM000675.1:g.32911256_32911269del GRCh37
NC_000013.9:g.31809256_31809269del NCBI36
NG_012772.3:g.26640_26653del , LRG_293:g.26640_26653del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.2764_2777del ENSP00000434898.2:p.Phe922HisfsTer9
ENST00000528762.2:c.2764_2777del ENSP00000433168.2:p.Phe922HisfsTer9
ENST00000530893.7:c.2395_2408del ENSP00000499438.2:p.Phe799HisfsTer9
ENST00000665585.2:c.2764_2777del ENSP00000499570.2:p.Phe922HisfsTer9
ENST00000666593.2:c.2764_2777del ENSP00000499256.2:p.Phe922HisfsTer9
ENST00000700202.2:c.2764_2777del ENSP00000514856.2:p.Phe922HisfsTer9
ENST00000380152.8:c.2764_2777del MANE Select ENSP00000369497.3:p.Phe922HisfsTer9
ENST00000544455.6:c.2764_2777del ENSP00000439902.1:p.Phe922HisfsTer9
ENST00000614259.2:c.2764_2777del ENSP00000506251.1:p.Phe922HisfsTer9
ENST00000680887.1:c.2764_2777del ENSP00000505508.1:p.Phe922HisfsTer9
ENST00000380152.7:c.2764_2777del ENSP00000369497.3:p.Phe922HisfsTer9
ENST00000544455.5:c.2764_2777del ENSP00000439902.1:p.Phe922HisfsTer9
ENST00000614259.1:n.2764_2777del
NM_000059.3:c.2764_2777del , LRG_293t1:c.2764_2777del NP_000050.2:p.Phe922HisfsTer9
XM_011535203.1:c.2764_2777del XP_011533505.1:p.Phe922HisfsTer9
XM_011535204.1:c.2764_2777del XP_011533506.1:p.Phe922HisfsTer9
XM_011535205.1:c.2764_2777del XP_011533507.1:p.Phe922HisfsTer9
NM_000059.4:c.2764_2777del MANE Select NP_000050.3:p.Phe922HisfsTer9
Search 100 bp 5'
Search 100 bp 3'