Canonical Allele Identifier: CA2082830047
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376958_32376960delinsGTA , CM000675.2:g.32376958_32376960delinsGTA GRCh38
NC_000013.10:g.32951095_32951097delinsGTA , CM000675.1:g.32951095_32951097delinsGTA GRCh37
NC_000013.9:g.31849095_31849097delinsGTA NCBI36
NG_012772.3:g.66479_66481delinsGTA , LRG_293:g.66479_66481delinsGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8754+167_8754+169delinsGTA ENSP00000434898.2:n.8754+167_8754+169delinsGTA
ENST00000528762.2:c.*121+167_*121+169delinsGTA ENSP00000433168.2:n.*121+167_*121+169delinsGTA
ENST00000530893.7:c.8385+167_8385+169delinsGTA ENSP00000499438.2:n.8385+167_8385+169delinsGTA
ENST00000665585.2:c.*316+167_*316+169delinsGTA ENSP00000499570.2:n.*316+167_*316+169delinsGTA
ENST00000666593.2:c.8754+167_8754+169delinsGTA ENSP00000499256.2:n.8754+167_8754+169delinsGTA
ENST00000700202.2:c.8754+167_8754+169delinsGTA ENSP00000514856.2:n.8754+167_8754+169delinsGTA
ENST00000700202.1:c.1221+167_1221+169delinsGTA ENSP00000514856.1:n.1221+167_1221+169delinsGTA
ENST00000700203.1:n.881+167_881+169delinsGTA
ENST00000380152.8:c.8754+167_8754+169delinsGTA MANE Select ENSP00000369497.3:n.8754+167_8754+169delinsGTA
ENST00000544455.6:c.8754+167_8754+169delinsGTA ENSP00000439902.1:n.8754+167_8754+169delinsGTA
ENST00000614259.2:c.8762+167_8762+169delinsGTA ENSP00000506251.1:n.8762+167_8762+169delinsGTA
ENST00000665585.1:c.1632+167_1632+169delinsGTA
ENST00000680887.1:c.8754+167_8754+169delinsGTA ENSP00000505508.1:n.8754+167_8754+169delinsGTA
ENST00000380152.7:c.8754+167_8754+169delinsGTA ENSP00000369497.3:n.8754+167_8754+169delinsGTA
ENST00000528762.1:c.316+167_316+169delinsGTA ENSP00000433168.1:n.316+167_316+169delinsGTA
ENST00000544455.5:c.8754+167_8754+169delinsGTA ENSP00000439902.1:n.8754+167_8754+169delinsGTA
NM_000059.3:c.8754+167_8754+169delinsGTA , LRG_293t1:c.8754+167_8754+169delinsGTA NP_000050.2:n.8754+167_8754+169delinsGTA
XM_011535203.1:c.8754+167_8754+169delinsGTA XP_011533505.1:n.8754+167_8754+169delinsGTA
XM_011535204.1:c.8658+167_8658+169delinsGTA XP_011533506.1:n.8658+167_8658+169delinsGTA
XM_011535205.1:c.8754+167_8754+169delinsGTA XP_011533507.1:n.8754+167_8754+169delinsGTA
NM_000059.4:c.8754+167_8754+169delinsGTA MANE Select NP_000050.3:n.8754+167_8754+169delinsGTA