Canonical Allele Identifier: CA413158516
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53248835G>T , CM000685.2:g.53248835G>T GRCh38
NC_000023.10:g.53278017G>T , CM000685.1:g.53278017G>T GRCh37
NC_000023.9:g.53294742G>T NCBI36
NG_021296.1:g.77506C>A
NG_021296.2:g.77516C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.2504C>A ENSP00000516672.1:p.Ser835Ter
ENST00000638521.1:c.297C>A
ENST00000640694.1:c.2345C>A ENSP00000492403.1:p.Ser782Ter
ENST00000642864.1:c.2345C>A MANE Select ENSP00000495726.1:p.Ser782Ter
ENST00000674510.1:c.2345C>A ENSP00000502054.1:p.Ser782Ter
ENST00000675719.1:c.2315C>A ENSP00000501927.1:p.Ser772Ter
ENST00000375365.2:c.1730C>A ENSP00000364514.2:p.Ser577Ter
ENST00000396435.7:c.2345C>A ENSP00000379712.3:p.Ser782Ter
NM_001111125.2:c.2345C>A NP_001104595.1:p.Ser782Ter
NM_015075.1:c.1730C>A NP_055890.1:p.Ser577Ter
XM_006724579.2:c.2441C>A XP_006724642.1:p.Ser814Ter
XM_006724580.2:c.1730C>A XP_006724643.1:p.Ser577Ter
XM_006724581.2:c.2441C>A XP_006724644.1:p.Ser814Ter
XM_006724582.2:c.2441C>A XP_006724645.1:p.Ser814Ter
XM_006724583.2:c.2441C>A XP_006724646.1:p.Ser814Ter
XM_006724584.2:c.2441C>A XP_006724647.1:p.Ser814Ter
XM_011530772.1:c.1667C>A XP_011529074.1:p.Ser556Ter
XM_011530773.1:c.1634C>A XP_011529075.1:p.Ser545Ter
XM_011530774.1:c.2441C>A XP_011529076.1:p.Ser814Ter
XM_011530775.1:c.2441C>A XP_011529077.1:p.Ser814Ter
XM_011530776.1:c.2441C>A XP_011529078.1:p.Ser814Ter
XM_011530777.1:c.2441C>A XP_011529079.1:p.Ser814Ter
XR_938365.1:n.2668C>A
XM_006724579.3:c.2441C>A XP_006724642.1:p.Ser814Ter
XM_006724580.3:c.1730C>A XP_006724643.1:p.Ser577Ter
XM_006724581.4:c.2441C>A XP_006724644.1:p.Ser814Ter
XM_006724582.4:c.2441C>A XP_006724645.1:p.Ser814Ter
XM_006724583.4:c.2441C>A XP_006724646.1:p.Ser814Ter
XM_006724584.3:c.2441C>A XP_006724647.1:p.Ser814Ter
XM_011530773.2:c.1634C>A XP_011529075.1:p.Ser545Ter
XM_011530774.3:c.2441C>A XP_011529076.1:p.Ser814Ter
XM_011530776.2:c.2441C>A XP_011529078.1:p.Ser814Ter
XM_011530777.2:c.2441C>A XP_011529079.1:p.Ser814Ter
XM_017029359.2:c.2315C>A XP_016884848.1:p.Ser772Ter
XM_017029360.1:c.1847C>A XP_016884849.1:p.Ser616Ter
XR_938365.2:n.2662C>A
NM_001111125.3:c.2345C>A MANE Select NP_001104595.1:p.Ser782Ter
NM_015075.2:c.1730C>A NP_055890.1:p.Ser577Ter