Canonical Allele Identifier: CA2580087307
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2431247
ClinVar RCV Id: RCV003140307

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337283_32337296delinsG , CM000675.2:g.32337283_32337296delinsG GRCh38
NC_000013.10:g.32911420_32911433delinsG , CM000675.1:g.32911420_32911433delinsG GRCh37
NC_000013.9:g.31809420_31809433delinsG NCBI36
NG_012772.3:g.26804_26817delinsG , LRG_293:g.26804_26817delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.2928_2941delinsG ENSP00000434898.2:p.Leu977LysfsTer10
ENST00000528762.2:c.2928_2941delinsG ENSP00000433168.2:p.Leu977LysfsTer10
ENST00000530893.7:c.2559_2572delinsG ENSP00000499438.2:p.Leu854LysfsTer10
ENST00000665585.2:c.2928_2941delinsG ENSP00000499570.2:p.Leu977LysfsTer10
ENST00000666593.2:c.2928_2941delinsG ENSP00000499256.2:p.Leu977LysfsTer10
ENST00000700202.2:c.2928_2941delinsG ENSP00000514856.2:p.Leu977LysfsTer10
ENST00000380152.8:c.2928_2941delinsG MANE Select ENSP00000369497.3:p.Leu977LysfsTer10
ENST00000544455.6:c.2928_2941delinsG ENSP00000439902.1:p.Leu977LysfsTer10
ENST00000614259.2:c.2928_2941delinsG ENSP00000506251.1:p.Leu977LysfsTer10
ENST00000680887.1:c.2928_2941delinsG ENSP00000505508.1:p.Leu977LysfsTer10
ENST00000380152.7:c.2928_2941delinsG ENSP00000369497.3:p.Leu977LysfsTer10
ENST00000544455.5:c.2928_2941delinsG ENSP00000439902.1:p.Leu977LysfsTer10
ENST00000614259.1:n.2928_2941delinsG
NM_000059.3:c.2928_2941delinsG , LRG_293t1:c.2928_2941delinsG NP_000050.2:p.Leu977LysfsTer10
XM_011535203.1:c.2928_2941delinsG XP_011533505.1:p.Leu977LysfsTer10
XM_011535204.1:c.2928_2941delinsG XP_011533506.1:p.Leu977LysfsTer10
XM_011535205.1:c.2928_2941delinsG XP_011533507.1:p.Leu977LysfsTer10
NM_000059.4:c.2928_2941delinsG MANE Select NP_000050.3:p.Leu977LysfsTer10