Canonical Allele Identifier: CA658683842
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 495441
ClinVar RCV Id: RCV000590776
dbSNP Id: rs1555282795

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337042_32337043insGA , CM000675.2:g.32337042_32337043insGA GRCh38
NC_000013.10:g.32911179_32911180insGA , CM000675.1:g.32911179_32911180insGA GRCh37
NC_000013.9:g.31809179_31809180insGA NCBI36
NG_012772.3:g.26563_26564insGA , LRG_293:g.26563_26564insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.2687_2688insGA ENSP00000434898.2:p.Asn896LysfsTer9
ENST00000528762.2:c.2687_2688insGA ENSP00000433168.2:p.Asn896LysfsTer9
ENST00000530893.7:c.2318_2319insGA ENSP00000499438.2:p.Asn773LysfsTer9
ENST00000665585.2:c.2687_2688insGA ENSP00000499570.2:p.Asn896LysfsTer9
ENST00000666593.2:c.2687_2688insGA ENSP00000499256.2:p.Asn896LysfsTer9
ENST00000700202.2:c.2687_2688insGA ENSP00000514856.2:p.Asn896LysfsTer9
ENST00000380152.8:c.2687_2688insGA MANE Select ENSP00000369497.3:p.Asn896LysfsTer9
ENST00000544455.6:c.2687_2688insGA ENSP00000439902.1:p.Asn896LysfsTer9
ENST00000614259.2:c.2687_2688insGA ENSP00000506251.1:p.Asn896LysfsTer9
ENST00000680887.1:c.2687_2688insGA ENSP00000505508.1:p.Asn896LysfsTer9
ENST00000380152.7:c.2687_2688insGA ENSP00000369497.3:p.Asn896LysfsTer9
ENST00000544455.5:c.2687_2688insGA ENSP00000439902.1:p.Asn896LysfsTer9
ENST00000614259.1:n.2687_2688insGA
NM_000059.3:c.2687_2688insGA , LRG_293t1:c.2687_2688insGA NP_000050.2:p.Asn896LysfsTer9
XM_011535203.1:c.2687_2688insGA XP_011533505.1:p.Asn896LysfsTer9
XM_011535204.1:c.2687_2688insGA XP_011533506.1:p.Asn896LysfsTer9
XM_011535205.1:c.2687_2688insGA XP_011533507.1:p.Asn896LysfsTer9
NM_000059.4:c.2687_2688insGA MANE Select NP_000050.3:p.Asn896LysfsTer9