Canonical Allele Identifier: CA413172476
Gene: IQSEC2 HGNC NCBI

Linked Data

gnomAD v4: X-53256054-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53256054C>T , CM000685.2:g.53256054C>T GRCh38
NC_000023.10:g.53285236C>T , CM000685.1:g.53285236C>T GRCh37
NC_000023.9:g.53301961C>T NCBI36
NG_021296.1:g.70287G>A
NG_021296.2:g.70297G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.904G>A ENSP00000516672.1:p.Gly302Ser
ENST00000638630.1:c.34G>A ENSP00000492390.1:p.Gly12Ser
ENST00000640694.1:c.745G>A ENSP00000492403.1:p.Gly249Ser
ENST00000642864.1:c.745G>A MANE Select ENSP00000495726.1:p.Gly249Ser
ENST00000674510.1:c.745G>A ENSP00000502054.1:p.Gly249Ser
ENST00000675719.1:c.715G>A ENSP00000501927.1:p.Gly239Ser
ENST00000375365.2:c.130G>A ENSP00000364514.2:p.Gly44Ser
ENST00000396435.7:c.745G>A ENSP00000379712.3:p.Gly249Ser
NM_001111125.2:c.745G>A NP_001104595.1:p.Gly249Ser
NM_015075.1:c.130G>A NP_055890.1:p.Gly44Ser
XM_006724579.2:c.841G>A XP_006724642.1:p.Gly281Ser
XM_006724580.2:c.130G>A XP_006724643.1:p.Gly44Ser
XM_006724581.2:c.841G>A XP_006724644.1:p.Gly281Ser
XM_006724582.2:c.841G>A XP_006724645.1:p.Gly281Ser
XM_006724583.2:c.841G>A XP_006724646.1:p.Gly281Ser
XM_006724584.2:c.841G>A XP_006724647.1:p.Gly281Ser
XM_011530772.1:c.67G>A XP_011529074.1:p.Gly23Ser
XM_011530773.1:c.34G>A XP_011529075.1:p.Gly12Ser
XM_011530774.1:c.841G>A XP_011529076.1:p.Gly281Ser
XM_011530775.1:c.841G>A XP_011529077.1:p.Gly281Ser
XM_011530776.1:c.841G>A XP_011529078.1:p.Gly281Ser
XM_011530777.1:c.841G>A XP_011529079.1:p.Gly281Ser
XR_938365.1:n.1068G>A
XM_006724579.3:c.841G>A XP_006724642.1:p.Gly281Ser
XM_006724580.3:c.130G>A XP_006724643.1:p.Gly44Ser
XM_006724581.4:c.841G>A XP_006724644.1:p.Gly281Ser
XM_006724582.4:c.841G>A XP_006724645.1:p.Gly281Ser
XM_006724583.4:c.841G>A XP_006724646.1:p.Gly281Ser
XM_006724584.3:c.841G>A XP_006724647.1:p.Gly281Ser
XM_011530773.2:c.34G>A XP_011529075.1:p.Gly12Ser
XM_011530774.3:c.841G>A XP_011529076.1:p.Gly281Ser
XM_011530776.2:c.841G>A XP_011529078.1:p.Gly281Ser
XM_011530777.2:c.841G>A XP_011529079.1:p.Gly281Ser
XM_017029359.2:c.715G>A XP_016884848.1:p.Gly239Ser
XM_017029360.1:c.247G>A XP_016884849.1:p.Gly83Ser
XR_938365.2:n.1062G>A
NM_001111125.3:c.745G>A MANE Select NP_001104595.1:p.Gly249Ser
NM_015075.2:c.130G>A NP_055890.1:p.Gly44Ser