Canonical Allele Identifier: CA2582341818
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583851
ClinVar RCV Id: RCV003334773

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32316421delinsAA , CM000675.2:g.32316421delinsAA GRCh38
NC_000013.10:g.32890558delinsAA , CM000675.1:g.32890558delinsAA GRCh37
NC_000013.9:g.31788558delinsAA NCBI36
NG_012772.3:g.5942delinsAA , LRG_293:g.5942delinsAA
NG_017006.1:g.534delinsTT
NG_017006.2:g.3943delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.-39-1delinsAA ENSP00000434898.2:n.-39-1delinsAA
ENST00000528762.2:c.-39-1delinsAA ENSP00000433168.2:n.-39-1delinsAA
ENST00000530893.7:c.-404-1delinsAA ENSP00000499438.2:n.-404-1delinsAA
ENST00000665585.2:c.-39-1delinsAA ENSP00000499570.2:n.-39-1delinsAA
ENST00000666593.2:c.-39-1delinsAA ENSP00000499256.2:n.-39-1delinsAA
ENST00000700202.2:c.-39-1delinsAA ENSP00000514856.2:n.-39-1delinsAA
ENST00000700199.1:n.86-1delinsAA
ENST00000700200.1:n.86-1delinsAA
ENST00000700201.1:c.-39-1delinsAA ENSP00000514855.1:n.-39-1delinsAA
ENST00000380152.8:c.-39-1delinsAA MANE Select ENSP00000369497.3:n.-39-1delinsAA
ENST00000544455.6:c.-39-1delinsAA ENSP00000439902.1:n.-39-1delinsAA
ENST00000680887.1:c.-39-1delinsAA ENSP00000505508.1:n.-39-1delinsAA
ENST00000380152.7:c.-39-1delinsAA ENSP00000369497.3:n.-39-1delinsAA
ENST00000530893.6:n.164-1delinsAA
ENST00000544455.5:c.-39-1delinsAA ENSP00000439902.1:n.-39-1delinsAA
NM_000059.3:c.-39-1delinsAA , LRG_293t1:c.-39-1delinsAA NP_000050.2:n.-39-1delinsAA
XM_011535203.1:c.-39-1delinsAA XP_011533505.1:n.-39-1delinsAA
XM_011535204.1:c.-39-1delinsAA XP_011533506.1:n.-39-1delinsAA
XM_011535205.1:c.-39-1delinsAA XP_011533507.1:n.-39-1delinsAA
NM_000059.4:c.-39-1delinsAA MANE Select NP_000050.3:n.-39-1delinsAA