Canonical Allele Identifier: CA2695233926
Gene: IQSEC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53248849_53248864del , CM000685.2:g.53248849_53248864del GRCh38
NC_000023.10:g.53278031_53278046del , CM000685.1:g.53278031_53278046del GRCh37
NC_000023.9:g.53294756_53294771del NCBI36
NG_021296.1:g.77478_77493del
NG_021296.2:g.77488_77503del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.2476_2491del ENSP00000516672.1:p.Gln826GlyfsTer25
ENST00000638521.1:c.269_284del
ENST00000640694.1:c.2317_2332del ENSP00000492403.1:p.Gln773GlyfsTer25
ENST00000642864.1:c.2317_2332del MANE Select ENSP00000495726.1:p.Gln773GlyfsTer25
ENST00000674510.1:c.2317_2332del ENSP00000502054.1:p.Gln773GlyfsTer25
ENST00000675719.1:c.2287_2302del ENSP00000501927.1:p.Gln763GlyfsTer25
ENST00000375365.2:c.1702_1717del ENSP00000364514.2:p.Gln568GlyfsTer25
ENST00000396435.7:c.2317_2332del ENSP00000379712.3:p.Gln773GlyfsTer25
NM_001111125.2:c.2317_2332del NP_001104595.1:p.Gln773GlyfsTer25
NM_015075.1:c.1702_1717del NP_055890.1:p.Gln568GlyfsTer25
XM_006724579.2:c.2413_2428del XP_006724642.1:p.Gln805GlyfsTer25
XM_006724580.2:c.1702_1717del XP_006724643.1:p.Gln568GlyfsTer25
XM_006724581.2:c.2413_2428del XP_006724644.1:p.Gln805GlyfsTer25
XM_006724582.2:c.2413_2428del XP_006724645.1:p.Gln805GlyfsTer25
XM_006724583.2:c.2413_2428del XP_006724646.1:p.Gln805GlyfsTer25
XM_006724584.2:c.2413_2428del XP_006724647.1:p.Gln805GlyfsTer25
XM_011530772.1:c.1639_1654del XP_011529074.1:p.Gln547GlyfsTer25
XM_011530773.1:c.1606_1621del XP_011529075.1:p.Gln536GlyfsTer25
XM_011530774.1:c.2413_2428del XP_011529076.1:p.Gln805GlyfsTer25
XM_011530775.1:c.2413_2428del XP_011529077.1:p.Gln805GlyfsTer25
XM_011530776.1:c.2413_2428del XP_011529078.1:p.Gln805GlyfsTer25
XM_011530777.1:c.2413_2428del XP_011529079.1:p.Gln805GlyfsTer25
XR_938365.1:n.2640_2655del
XM_006724579.3:c.2413_2428del XP_006724642.1:p.Gln805GlyfsTer25
XM_006724580.3:c.1702_1717del XP_006724643.1:p.Gln568GlyfsTer25
XM_006724581.4:c.2413_2428del XP_006724644.1:p.Gln805GlyfsTer25
XM_006724582.4:c.2413_2428del XP_006724645.1:p.Gln805GlyfsTer25
XM_006724583.4:c.2413_2428del XP_006724646.1:p.Gln805GlyfsTer25
XM_006724584.3:c.2413_2428del XP_006724647.1:p.Gln805GlyfsTer25
XM_011530773.2:c.1606_1621del XP_011529075.1:p.Gln536GlyfsTer25
XM_011530774.3:c.2413_2428del XP_011529076.1:p.Gln805GlyfsTer25
XM_011530776.2:c.2413_2428del XP_011529078.1:p.Gln805GlyfsTer25
XM_011530777.2:c.2413_2428del XP_011529079.1:p.Gln805GlyfsTer25
XM_017029359.2:c.2287_2302del XP_016884848.1:p.Gln763GlyfsTer25
XM_017029360.1:c.1819_1834del XP_016884849.1:p.Gln607GlyfsTer25
XR_938365.2:n.2634_2649del
NM_001111125.3:c.2317_2332del MANE Select NP_001104595.1:p.Gln773GlyfsTer25
NM_015075.2:c.1702_1717del NP_055890.1:p.Gln568GlyfsTer25