Canonical Allele Identifier: CA2580087449
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1764551
ClinVar RCV Id: RCV002373568

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379311_32379315del , CM000675.2:g.32379311_32379315del GRCh38
NC_000013.10:g.32953448_32953452del , CM000675.1:g.32953448_32953452del GRCh37
NC_000013.9:g.31851448_31851452del NCBI36
NG_012772.3:g.68832_68836del , LRG_293:g.68832_68836del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8755-6_8755-2del ENSP00000434898.2:n.8755-6_8755-2del
ENST00000528762.2:c.*122-6_*122-2del ENSP00000433168.2:n.*122-6_*122-2del
ENST00000530893.7:c.8386-6_8386-2del ENSP00000499438.2:n.8386-6_8386-2del
ENST00000665585.2:c.*317-6_*317-2del ENSP00000499570.2:n.*317-6_*317-2del
ENST00000666593.2:c.8755-6_8755-2del ENSP00000499256.2:n.8755-6_8755-2del
ENST00000700202.2:c.8755-6_8755-2del ENSP00000514856.2:n.8755-6_8755-2del
ENST00000700202.1:c.1222-6_1222-2del ENSP00000514856.1:n.1222-6_1222-2del
ENST00000700203.1:n.882-6_882-2del
ENST00000380152.8:c.8755-6_8755-2del MANE Select ENSP00000369497.3:n.8755-6_8755-2del
ENST00000544455.6:c.8755-6_8755-2del ENSP00000439902.1:n.8755-6_8755-2del
ENST00000614259.2:c.8763-6_8763-2del ENSP00000506251.1:n.8763-6_8763-2del
ENST00000665585.1:c.1633-6_1633-2del
ENST00000680887.1:c.8755-6_8755-2del ENSP00000505508.1:n.8755-6_8755-2del
ENST00000380152.7:c.8755-6_8755-2del ENSP00000369497.3:n.8755-6_8755-2del
ENST00000528762.1:c.317-6_317-2del ENSP00000433168.1:n.317-6_317-2del
ENST00000544455.5:c.8755-6_8755-2del ENSP00000439902.1:n.8755-6_8755-2del
NM_000059.3:c.8755-6_8755-2del , LRG_293t1:c.8755-6_8755-2del NP_000050.2:n.8755-6_8755-2del
XM_011535203.1:c.8755-6_8755-2del XP_011533505.1:n.8755-6_8755-2del
XM_011535204.1:c.8659-6_8659-2del XP_011533506.1:n.8659-6_8659-2del
XM_011535205.1:c.8755-439_8755-435del XP_011533507.1:n.8755-439_8755-435del
NM_000059.4:c.8755-6_8755-2del MANE Select NP_000050.3:n.8755-6_8755-2del