Canonical Allele Identifier: CA2580087453
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1764549
ClinVar RCV Id: RCV002373566

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379314_32379315delinsGG , CM000675.2:g.32379314_32379315delinsGG GRCh38
NC_000013.10:g.32953451_32953452delinsGG , CM000675.1:g.32953451_32953452delinsGG GRCh37
NC_000013.9:g.31851451_31851452delinsGG NCBI36
NG_012772.3:g.68835_68836delinsGG , LRG_293:g.68835_68836delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8755-3_8755-2delinsGG ENSP00000434898.2:n.8755-3_8755-2delinsGG
ENST00000528762.2:c.*122-3_*122-2delinsGG ENSP00000433168.2:n.*122-3_*122-2delinsGG
ENST00000530893.7:c.8386-3_8386-2delinsGG ENSP00000499438.2:n.8386-3_8386-2delinsGG
ENST00000665585.2:c.*317-3_*317-2delinsGG ENSP00000499570.2:n.*317-3_*317-2delinsGG
ENST00000666593.2:c.8755-3_8755-2delinsGG ENSP00000499256.2:n.8755-3_8755-2delinsGG
ENST00000700202.2:c.8755-3_8755-2delinsGG ENSP00000514856.2:n.8755-3_8755-2delinsGG
ENST00000700202.1:c.1222-3_1222-2delinsGG ENSP00000514856.1:n.1222-3_1222-2delinsGG
ENST00000700203.1:n.882-3_882-2delinsGG
ENST00000380152.8:c.8755-3_8755-2delinsGG MANE Select ENSP00000369497.3:n.8755-3_8755-2delinsGG
ENST00000544455.6:c.8755-3_8755-2delinsGG ENSP00000439902.1:n.8755-3_8755-2delinsGG
ENST00000614259.2:c.8763-3_8763-2delinsGG ENSP00000506251.1:n.8763-3_8763-2delinsGG
ENST00000665585.1:c.1633-3_1633-2delinsGG
ENST00000680887.1:c.8755-3_8755-2delinsGG ENSP00000505508.1:n.8755-3_8755-2delinsGG
ENST00000380152.7:c.8755-3_8755-2delinsGG ENSP00000369497.3:n.8755-3_8755-2delinsGG
ENST00000528762.1:c.317-3_317-2delinsGG ENSP00000433168.1:n.317-3_317-2delinsGG
ENST00000544455.5:c.8755-3_8755-2delinsGG ENSP00000439902.1:n.8755-3_8755-2delinsGG
NM_000059.3:c.8755-3_8755-2delinsGG , LRG_293t1:c.8755-3_8755-2delinsGG NP_000050.2:n.8755-3_8755-2delinsGG
XM_011535203.1:c.8755-3_8755-2delinsGG XP_011533505.1:n.8755-3_8755-2delinsGG
XM_011535204.1:c.8659-3_8659-2delinsGG XP_011533506.1:n.8659-3_8659-2delinsGG
XM_011535205.1:c.8755-436_8755-435delinsGG XP_011533507.1:n.8755-436_8755-435delinsGG
NM_000059.4:c.8755-3_8755-2delinsGG MANE Select NP_000050.3:n.8755-3_8755-2delinsGG