Canonical Allele Identifier: CA2820946108
Gene: IQSEC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53255976dup , CM000685.2:g.53255976dup GRCh38
NC_000023.10:g.53285158dup , CM000685.1:g.53285158dup GRCh37
NC_000023.9:g.53301883dup NCBI36
NG_021296.1:g.70370dup
NG_021296.2:g.70380dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.987dup ENSP00000516672.1:p.Ser330LeufsTer?
ENST00000638630.1:c.117dup ENSP00000492390.1:p.Ser40LeufsTer?
ENST00000640694.1:c.828dup ENSP00000492403.1:p.Ser277LeufsTer?
ENST00000642864.1:c.828dup MANE Select ENSP00000495726.1:p.Ser277LeufsTer?
ENST00000674510.1:c.828dup ENSP00000502054.1:p.Ser277LeufsTer?
ENST00000675719.1:c.798dup ENSP00000501927.1:p.Ser267LeufsTer?
ENST00000375365.2:c.213dup ENSP00000364514.2:p.Ser72LeufsTer?
ENST00000396435.7:c.828dup ENSP00000379712.3:p.Ser277LeufsTer?
NM_001111125.2:c.828dup NP_001104595.1:p.Ser277LeufsTer?
NM_015075.1:c.213dup NP_055890.1:p.Ser72LeufsTer?
XM_006724579.2:c.924dup XP_006724642.1:p.Ser309LeufsTer?
XM_006724580.2:c.213dup XP_006724643.1:p.Ser72LeufsTer?
XM_006724581.2:c.924dup XP_006724644.1:p.Ser309LeufsTer?
XM_006724582.2:c.924dup XP_006724645.1:p.Ser309LeufsTer?
XM_006724583.2:c.924dup XP_006724646.1:p.Ser309LeufsTer?
XM_006724584.2:c.924dup XP_006724647.1:p.Ser309LeufsTer?
XM_011530772.1:c.150dup XP_011529074.1:p.Ser51LeufsTer?
XM_011530773.1:c.117dup XP_011529075.1:p.Ser40LeufsTer?
XM_011530774.1:c.924dup XP_011529076.1:p.Ser309LeufsTer?
XM_011530775.1:c.924dup XP_011529077.1:p.Ser309LeufsTer?
XM_011530776.1:c.924dup XP_011529078.1:p.Ser309LeufsTer?
XM_011530777.1:c.924dup XP_011529079.1:p.Ser309LeufsTer?
XR_938365.1:n.1151dup
XM_006724579.3:c.924dup XP_006724642.1:p.Ser309LeufsTer?
XM_006724580.3:c.213dup XP_006724643.1:p.Ser72LeufsTer?
XM_006724581.4:c.924dup XP_006724644.1:p.Ser309LeufsTer?
XM_006724582.4:c.924dup XP_006724645.1:p.Ser309LeufsTer?
XM_006724583.4:c.924dup XP_006724646.1:p.Ser309LeufsTer?
XM_006724584.3:c.924dup XP_006724647.1:p.Ser309LeufsTer?
XM_011530773.2:c.117dup XP_011529075.1:p.Ser40LeufsTer?
XM_011530774.3:c.924dup XP_011529076.1:p.Ser309LeufsTer?
XM_011530776.2:c.924dup XP_011529078.1:p.Ser309LeufsTer?
XM_011530777.2:c.924dup XP_011529079.1:p.Ser309LeufsTer?
XM_017029359.2:c.798dup XP_016884848.1:p.Ser267LeufsTer?
XM_017029360.1:c.330dup XP_016884849.1:p.Ser111LeufsTer?
XR_938365.2:n.1145dup
NM_001111125.3:c.828dup MANE Select NP_001104595.1:p.Ser277LeufsTer?
NM_015075.2:c.213dup NP_055890.1:p.Ser72LeufsTer?