Canonical Allele Identifier: CA10420134
Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1477730
dbSNP Id: rs782531514
gnomAD v2: X-53285131-G-T
gnomAD v4: X-53255949-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53255949G>T , CM000685.2:g.53255949G>T GRCh38
NC_000023.10:g.53285131G>T , CM000685.1:g.53285131G>T GRCh37
NC_000023.9:g.53301856G>T NCBI36
NG_021296.1:g.70392C>A
NG_021296.2:g.70402C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.1009C>A ENSP00000516672.1:p.Pro337Thr
ENST00000638630.1:c.139C>A ENSP00000492390.1:p.Pro47Thr
ENST00000640694.1:c.850C>A ENSP00000492403.1:p.Pro284Thr
ENST00000642864.1:c.850C>A MANE Select ENSP00000495726.1:p.Pro284Thr
ENST00000674510.1:c.850C>A ENSP00000502054.1:p.Pro284Thr
ENST00000675719.1:c.820C>A ENSP00000501927.1:p.Pro274Thr
ENST00000375365.2:c.235C>A ENSP00000364514.2:p.Pro79Thr
ENST00000396435.7:c.850C>A ENSP00000379712.3:p.Pro284Thr
NM_001111125.2:c.850C>A NP_001104595.1:p.Pro284Thr
NM_015075.1:c.235C>A NP_055890.1:p.Pro79Thr
XM_006724579.2:c.946C>A XP_006724642.1:p.Pro316Thr
XM_006724580.2:c.235C>A XP_006724643.1:p.Pro79Thr
XM_006724581.2:c.946C>A XP_006724644.1:p.Pro316Thr
XM_006724582.2:c.946C>A XP_006724645.1:p.Pro316Thr
XM_006724583.2:c.946C>A XP_006724646.1:p.Pro316Thr
XM_006724584.2:c.946C>A XP_006724647.1:p.Pro316Thr
XM_011530772.1:c.172C>A XP_011529074.1:p.Pro58Thr
XM_011530773.1:c.139C>A XP_011529075.1:p.Pro47Thr
XM_011530774.1:c.946C>A XP_011529076.1:p.Pro316Thr
XM_011530775.1:c.946C>A XP_011529077.1:p.Pro316Thr
XM_011530776.1:c.946C>A XP_011529078.1:p.Pro316Thr
XM_011530777.1:c.946C>A XP_011529079.1:p.Pro316Thr
XR_938365.1:n.1173C>A
XM_006724579.3:c.946C>A XP_006724642.1:p.Pro316Thr
XM_006724580.3:c.235C>A XP_006724643.1:p.Pro79Thr
XM_006724581.4:c.946C>A XP_006724644.1:p.Pro316Thr
XM_006724582.4:c.946C>A XP_006724645.1:p.Pro316Thr
XM_006724583.4:c.946C>A XP_006724646.1:p.Pro316Thr
XM_006724584.3:c.946C>A XP_006724647.1:p.Pro316Thr
XM_011530773.2:c.139C>A XP_011529075.1:p.Pro47Thr
XM_011530774.3:c.946C>A XP_011529076.1:p.Pro316Thr
XM_011530776.2:c.946C>A XP_011529078.1:p.Pro316Thr
XM_011530777.2:c.946C>A XP_011529079.1:p.Pro316Thr
XM_017029359.2:c.820C>A XP_016884848.1:p.Pro274Thr
XM_017029360.1:c.352C>A XP_016884849.1:p.Pro118Thr
XR_938365.2:n.1167C>A
NM_001111125.3:c.850C>A MANE Select NP_001104595.1:p.Pro284Thr
NM_015075.2:c.235C>A NP_055890.1:p.Pro79Thr