Canonical Allele Identifier: CA016521
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51354
ClinVar RCV Id: RCV001385340
dbSNP Id: rs397507643
gnomAD v4: 13-32337180-CAATT-C
MyVariant Identifiers: chr13:g.32911320_32911323del (hg19) chr13:g.32337183_32337186del (hg38)
PubMed: PMID:21204799
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337183_32337186del , CM000675.2:g.32337183_32337186del GRCh38
NC_000013.10:g.32911320_32911323del , CM000675.1:g.32911320_32911323del GRCh37
NC_000013.9:g.31809320_31809323del NCBI36
NG_012772.3:g.26704_26707del , LRG_293:g.26704_26707del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.2828_2831del ENSP00000434898.2:p.Ile943LysfsTer16
ENST00000528762.2:c.2828_2831del ENSP00000433168.2:p.Ile943LysfsTer16
ENST00000530893.7:c.2459_2462del ENSP00000499438.2:p.Ile820LysfsTer16
ENST00000665585.2:c.2828_2831del ENSP00000499570.2:p.Ile943LysfsTer16
ENST00000666593.2:c.2828_2831del ENSP00000499256.2:p.Ile943LysfsTer16
ENST00000700202.2:c.2828_2831del ENSP00000514856.2:p.Ile943LysfsTer16
ENST00000380152.8:c.2828_2831del MANE Select ENSP00000369497.3:p.Ile943LysfsTer16
ENST00000544455.6:c.2828_2831del ENSP00000439902.1:p.Ile943LysfsTer16
ENST00000614259.2:c.2828_2831del ENSP00000506251.1:p.Ile943LysfsTer16
ENST00000680887.1:c.2828_2831del ENSP00000505508.1:p.Ile943LysfsTer16
ENST00000380152.7:c.2828_2831del ENSP00000369497.3:p.Ile943LysfsTer16
ENST00000544455.5:c.2828_2831del ENSP00000439902.1:p.Ile943LysfsTer16
ENST00000614259.1:n.2828_2831del
NM_000059.3:c.2828_2831del , LRG_293t1:c.2828_2831del NP_000050.2:p.Ile943LysfsTer16
XM_011535203.1:c.2828_2831del XP_011533505.1:p.Ile943LysfsTer16
XM_011535204.1:c.2828_2831del XP_011533506.1:p.Ile943LysfsTer16
XM_011535205.1:c.2828_2831del XP_011533507.1:p.Ile943LysfsTer16
NM_000059.4:c.2828_2831del MANE Select NP_000050.3:p.Ile943LysfsTer16
Search 100 bp 5'
Search 100 bp 3'