Canonical Allele Identifier: CA2082836236
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379460_32379461delinsCA , CM000675.2:g.32379460_32379461delinsCA GRCh38
NC_000013.10:g.32953597_32953598delinsCA , CM000675.1:g.32953597_32953598delinsCA GRCh37
NC_000013.9:g.31851597_31851598delinsCA NCBI36
NG_012772.3:g.68981_68982delinsCA , LRG_293:g.68981_68982delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8898_8899delinsCA ENSP00000434898.2:p.Val2966=
ENST00000528762.2:c.*265_*266delinsCA ENSP00000433168.2:n.*265_*266delinsCA
ENST00000530893.7:c.8529_8530delinsCA ENSP00000499438.2:p.Val2843=
ENST00000665585.2:c.*460_*461delinsCA ENSP00000499570.2:n.*460_*461delinsCA
ENST00000666593.2:c.8898_8899delinsCA ENSP00000499256.2:p.Val2966=
ENST00000700202.2:c.8898_8899delinsCA ENSP00000514856.2:p.Val2966=
ENST00000700202.1:c.1365_1366delinsCA ENSP00000514856.1:p.Val455=
ENST00000700203.1:n.1025_1026delinsCA
ENST00000380152.8:c.8898_8899delinsCA MANE Select ENSP00000369497.3:p.Val2966=
ENST00000544455.6:c.8898_8899delinsCA ENSP00000439902.1:p.Val2966=
ENST00000614259.2:c.8906_8907delinsCA ENSP00000506251.1:n.8906_8907delinsCA
ENST00000665585.1:c.1776_1777delinsCA
ENST00000680887.1:c.8898_8899delinsCA ENSP00000505508.1:p.Val2966=
ENST00000380152.7:c.8898_8899delinsCA ENSP00000369497.3:p.Val2966=
ENST00000528762.1:c.460_461delinsCA ENSP00000433168.1:n.460_461delinsCA
ENST00000544455.5:c.8898_8899delinsCA ENSP00000439902.1:p.Val2966=
NM_000059.3:c.8898_8899delinsCA , LRG_293t1:c.8898_8899delinsCA NP_000050.2:p.Val2966=
XM_011535203.1:c.8898_8899delinsCA XP_011533505.1:p.Val2966=
XM_011535204.1:c.8802_8803delinsCA XP_011533506.1:p.Val2934=
XM_011535205.1:c.8755-290_8755-289delinsCA XP_011533507.1:n.8755-290_8755-289delinsCA
NM_000059.4:c.8898_8899delinsCA MANE Select NP_000050.3:p.Val2966=