Canonical Allele Identifier: CA516674443
Gene: IQSEC2 HGNC NCBI

Linked Data

gnomAD v4: X-53255890-G-T
MyVariant Identifiers: chrX:g.53285072G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53255890G>T , CM000685.2:g.53255890G>T GRCh38
NC_000023.10:g.53285072G>T , CM000685.1:g.53285072G>T GRCh37
NC_000023.9:g.53301797G>T NCBI36
NG_021296.1:g.70451C>A
NG_021296.2:g.70461C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.1068C>A ENSP00000516672.1:p.Val356=
ENST00000638630.1:c.198C>A ENSP00000492390.1:p.Val66=
ENST00000640694.1:c.909C>A ENSP00000492403.1:p.Val303=
ENST00000642864.1:c.909C>A MANE Select ENSP00000495726.1:p.Val303=
ENST00000674510.1:c.909C>A ENSP00000502054.1:p.Val303=
ENST00000675719.1:c.879C>A ENSP00000501927.1:p.Val293=
ENST00000375365.2:c.294C>A ENSP00000364514.2:p.Val98=
ENST00000396435.7:c.909C>A ENSP00000379712.3:p.Val303=
NM_001111125.2:c.909C>A NP_001104595.1:p.Val303=
NM_015075.1:c.294C>A NP_055890.1:p.Val98=
XM_006724579.2:c.1005C>A XP_006724642.1:p.Val335=
XM_006724580.2:c.294C>A XP_006724643.1:p.Val98=
XM_006724581.2:c.1005C>A XP_006724644.1:p.Val335=
XM_006724582.2:c.1005C>A XP_006724645.1:p.Val335=
XM_006724583.2:c.1005C>A XP_006724646.1:p.Val335=
XM_006724584.2:c.1005C>A XP_006724647.1:p.Val335=
XM_011530772.1:c.231C>A XP_011529074.1:p.Val77=
XM_011530773.1:c.198C>A XP_011529075.1:p.Val66=
XM_011530774.1:c.1005C>A XP_011529076.1:p.Val335=
XM_011530775.1:c.1005C>A XP_011529077.1:p.Val335=
XM_011530776.1:c.1005C>A XP_011529078.1:p.Val335=
XM_011530777.1:c.1005C>A XP_011529079.1:p.Val335=
XR_938365.1:n.1232C>A
XM_006724579.3:c.1005C>A XP_006724642.1:p.Val335=
XM_006724580.3:c.294C>A XP_006724643.1:p.Val98=
XM_006724581.4:c.1005C>A XP_006724644.1:p.Val335=
XM_006724582.4:c.1005C>A XP_006724645.1:p.Val335=
XM_006724583.4:c.1005C>A XP_006724646.1:p.Val335=
XM_006724584.3:c.1005C>A XP_006724647.1:p.Val335=
XM_011530773.2:c.198C>A XP_011529075.1:p.Val66=
XM_011530774.3:c.1005C>A XP_011529076.1:p.Val335=
XM_011530776.2:c.1005C>A XP_011529078.1:p.Val335=
XM_011530777.2:c.1005C>A XP_011529079.1:p.Val335=
XM_017029359.2:c.879C>A XP_016884848.1:p.Val293=
XM_017029360.1:c.411C>A XP_016884849.1:p.Val137=
XR_938365.2:n.1226C>A
NM_001111125.3:c.909C>A MANE Select NP_001104595.1:p.Val303=
NM_015075.2:c.294C>A NP_055890.1:p.Val98=