Canonical Allele Identifier: CA2429770697
Gene: IQSEC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53235121_53235122delinsGC , CM000685.2:g.53235121_53235122delinsGC GRCh38
NC_000023.10:g.53264303_53264304delinsGC , CM000685.1:g.53264303_53264304delinsGC GRCh37
NC_000023.9:g.53281028_53281029delinsGC NCBI36
NG_021296.1:g.91219_91220delinsGC
NG_021296.2:g.91229_91230delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3723_3724delinsGC ENSP00000516672.1:p.Pro1241=
ENST00000638521.1:c.1453+661_1453+662delinsGC
ENST00000638869.1:c.962+661_962+662delinsGC
ENST00000639796.1:c.316+1200_316+1201delinsGC ENSP00000492252.1:n.316+1200_316+1201delinsGC
ENST00000640005.1:c.514+1200_514+1201delinsGC ENSP00000491293.1:n.514+1200_514+1201delinsGC
ENST00000640436.1:n.544_545delinsGC
ENST00000640694.1:c.*49_*50delinsGC ENSP00000492403.1:n.*49_*50delinsGC
ENST00000642864.1:c.3564_3565delinsGC MANE Select ENSP00000495726.1:p.Pro1188=
ENST00000674510.1:c.3564_3565delinsGC ENSP00000502054.1:p.Pro1188=
ENST00000675719.1:c.3534_3535delinsGC ENSP00000501927.1:p.Pro1178=
ENST00000375365.2:c.*49_*50delinsGC ENSP00000364514.2:n.*49_*50delinsGC
ENST00000396435.7:c.3564_3565delinsGC ENSP00000379712.3:p.Pro1188=
NM_001111125.2:c.3564_3565delinsGC NP_001104595.1:p.Pro1188=
NM_015075.1:c.*49_*50delinsGC NP_055890.1:n.*49_*50delinsGC
XM_006724579.2:c.3660_3661delinsGC XP_006724642.1:p.Pro1220=
XM_006724580.2:c.2949_2950delinsGC XP_006724643.1:p.Pro983=
XM_006724581.2:c.3597+661_3597+662delinsGC XP_006724644.1:n.3597+661_3597+662delinsGC
XM_006724582.2:c.3597+661_3597+662delinsGC XP_006724645.1:n.3597+661_3597+662delinsGC
XM_006724583.2:c.3547+1200_3547+1201delinsGC XP_006724646.1:n.3547+1200_3547+1201delinsGC
XM_006724584.2:c.*49_*50delinsGC XP_006724647.1:n.*49_*50delinsGC
XM_011530772.1:c.2886_2887delinsGC XP_011529074.1:p.Pro962=
XM_011530773.1:c.2853_2854delinsGC XP_011529075.1:p.Pro951=
XM_011530775.1:c.3547+1200_3547+1201delinsGC XP_011529077.1:n.3547+1200_3547+1201delinsGC
XM_006724579.3:c.3660_3661delinsGC XP_006724642.1:p.Pro1220=
XM_006724580.3:c.2949_2950delinsGC XP_006724643.1:p.Pro983=
XM_006724581.4:c.3597+661_3597+662delinsGC XP_006724644.1:n.3597+661_3597+662delinsGC
XM_006724582.4:c.3597+661_3597+662delinsGC XP_006724645.1:n.3597+661_3597+662delinsGC
XM_006724583.4:c.3547+1200_3547+1201delinsGC XP_006724646.1:n.3547+1200_3547+1201delinsGC
XM_006724584.3:c.*49_*50delinsGC XP_006724647.1:n.*49_*50delinsGC
XM_011530773.2:c.2853_2854delinsGC XP_011529075.1:p.Pro951=
XM_017029359.2:c.3534_3535delinsGC XP_016884848.1:p.Pro1178=
XM_017029360.1:c.3066_3067delinsGC XP_016884849.1:p.Pro1022=
NM_001111125.3:c.3564_3565delinsGC MANE Select NP_001104595.1:p.Pro1188=
NM_015075.2:c.*49_*50delinsGC NP_055890.1:n.*49_*50delinsGC