Canonical Allele Identifier: CA2580616854
Gene: NFKB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1377618
ClinVar RCV Id: RCV001888601
dbSNP Id: rs2135428957

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102396507_102396510del , CM000672.2:g.102396507_102396510del GRCh38
NC_000010.10:g.104156264_104156267del , CM000672.1:g.104156264_104156267del GRCh37
NC_000010.9:g.104146254_104146257del NCBI36
NG_033874.1:g.7398_7401del
NG_033874.2:g.7398_7401del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697881.1:n.414+18_414+21del
ENST00000697882.1:n.139+18_139+21del
ENST00000189444.11:c.144+18_144+21del ENSP00000189444.6:n.144+18_144+21del
ENST00000369966.8:c.144+18_144+21del ENSP00000358983.3:n.144+18_144+21del
ENST00000428099.6:c.144+18_144+21del ENSP00000410256.1:n.144+18_144+21del
ENST00000471698.6:n.415_418del
ENST00000652277.1:c.144+18_144+21del ENSP00000498308.1:n.144+18_144+21del
ENST00000661543.1:c.144+18_144+21del MANE Select ENSP00000499294.1:n.144+18_144+21del
ENST00000189444.10:c.144+18_144+21del ENSP00000189444.6:n.144+18_144+21del
ENST00000369966.7:c.144+18_144+21del ENSP00000358983.3:n.144+18_144+21del
ENST00000428099.5:c.144+18_144+21del ENSP00000410256.1:n.144+18_144+21del
ENST00000467116.5:n.307+18_307+21del
ENST00000471698.5:c.144+18_144+21del ENSP00000471586.1:n.144+18_144+21del
ENST00000610498.1:c.144+18_144+21del ENSP00000480211.1:n.144+18_144+21del
NM_001077494.3:c.144+18_144+21del NP_001070962.1:n.144+18_144+21del
NM_001261403.2:c.144+18_144+21del NP_001248332.1:n.144+18_144+21del
NM_001288724.1:c.144+18_144+21del NP_001275653.1:n.144+18_144+21del
NM_002502.5:c.144+18_144+21del NP_002493.3:n.144+18_144+21del
XM_005269860.1:c.144+18_144+21del XP_005269917.1:n.144+18_144+21del
XM_005269861.3:c.144+18_144+21del XP_005269918.1:n.144+18_144+21del
XM_011539830.1:c.-41+18_-41+21del XP_011538132.1:n.-41+18_-41+21del
NM_001322934.1:c.144+18_144+21del NP_001309863.1:n.144+18_144+21del
NM_001322935.1:c.144+18_144+21del NP_001309864.1:n.144+18_144+21del
XM_011539830.3:c.-41+18_-41+21del XP_011538132.1:n.-41+18_-41+21del
XM_017016278.1:c.687+18_687+21del XP_016871767.1:n.687+18_687+21del
XM_024448026.1:c.-200_-197del XP_024303794.1:n.-200_-197del
XM_024448027.1:c.-1137+18_-1137+21del XP_024303795.1:n.-1137+18_-1137+21del
NM_001261403.3:c.144+18_144+21del NP_001248332.1:n.144+18_144+21del
NM_001322934.2:c.144+18_144+21del MANE Select NP_001309863.1:n.144+18_144+21del
NM_002502.6:c.144+18_144+21del NP_002493.3:n.144+18_144+21del