Canonical Allele Identifier: CA2082838478
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379845_32379850delinsAAAAGT , CM000675.2:g.32379845_32379850delinsAAAAGT GRCh38
NC_000013.10:g.32953982_32953987delinsAAAAGT , CM000675.1:g.32953982_32953987delinsAAAAGT GRCh37
NC_000013.9:g.31851982_31851987delinsAAAAGT NCBI36
NG_012772.3:g.69366_69371delinsAAAAGT , LRG_293:g.69366_69371delinsAAAAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9049_9054delinsAAAAGT ENSP00000434898.2:p.Lys3017=
ENST00000528762.2:c.*416_*421delinsAAAAGT ENSP00000433168.2:n.*416_*421delinsAAAAGT
ENST00000530893.7:c.8680_8685delinsAAAAGT ENSP00000499438.2:p.Lys2894=
ENST00000665585.2:c.*611_*616delinsAAAAGT ENSP00000499570.2:n.*611_*616delinsAAAAGT
ENST00000666593.2:c.9049_9054delinsAAAAGT ENSP00000499256.2:p.Lys3017=
ENST00000700202.2:c.8998_9003delinsAAAAGT ENSP00000514856.2:p.Lys3000=
ENST00000700202.1:c.1465_1470delinsAAAAGT ENSP00000514856.1:p.Lys489=
ENST00000700203.1:n.1176_1181delinsAAAAGT
ENST00000380152.8:c.9049_9054delinsAAAAGT MANE Select ENSP00000369497.3:p.Lys3017=
ENST00000544455.6:c.9049_9054delinsAAAAGT ENSP00000439902.1:p.Lys3017=
ENST00000614259.2:c.9057_9062delinsAAAAGT ENSP00000506251.1:n.9057_9062delinsAAAAGT
ENST00000665585.1:c.1927_1932delinsAAAAGT
ENST00000680887.1:c.9049_9054delinsAAAAGT ENSP00000505508.1:p.Lys3017=
ENST00000380152.7:c.9049_9054delinsAAAAGT ENSP00000369497.3:p.Lys3017=
ENST00000470094.1:c.6_11delinsAAAAGT
ENST00000544455.5:c.9049_9054delinsAAAAGT ENSP00000439902.1:p.Lys3017=
NM_000059.3:c.9049_9054delinsAAAAGT , LRG_293t1:c.9049_9054delinsAAAAGT NP_000050.2:p.Lys3017=
XM_011535203.1:c.9049_9054delinsAAAAGT XP_011533505.1:p.Lys3017=
XM_011535204.1:c.8953_8958delinsAAAAGT XP_011533506.1:p.Lys2985=
NM_000059.4:c.9049_9054delinsAAAAGT MANE Select NP_000050.3:p.Lys3017=