Canonical Allele Identifier: CA516416254
Gene: IQSEC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.53264352G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53235170G>A , CM000685.2:g.53235170G>A GRCh38
NC_000023.10:g.53264352G>A , CM000685.1:g.53264352G>A GRCh37
NC_000023.9:g.53281077G>A NCBI36
NG_021296.1:g.91171C>T
NG_021296.2:g.91181C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3675C>T ENSP00000516672.1:p.Ser1225=
ENST00000638521.1:c.1453+613C>T
ENST00000638869.1:c.962+613C>T
ENST00000639796.1:c.316+1152C>T ENSP00000492252.1:n.316+1152C>T
ENST00000640005.1:c.514+1152C>T ENSP00000491293.1:n.514+1152C>T
ENST00000640436.1:n.496C>T
ENST00000640694.1:c.*1C>T ENSP00000492403.1:n.*1C>T
ENST00000642864.1:c.3516C>T MANE Select ENSP00000495726.1:p.Ser1172=
ENST00000674510.1:c.3516C>T ENSP00000502054.1:p.Ser1172=
ENST00000675719.1:c.3486C>T ENSP00000501927.1:p.Ser1162=
ENST00000375365.2:c.*1C>T ENSP00000364514.2:n.*1C>T
ENST00000396435.7:c.3516C>T ENSP00000379712.3:p.Ser1172=
NM_001111125.2:c.3516C>T NP_001104595.1:p.Ser1172=
NM_015075.1:c.*1C>T NP_055890.1:n.*1C>T
XM_006724579.2:c.3612C>T XP_006724642.1:p.Ser1204=
XM_006724580.2:c.2901C>T XP_006724643.1:p.Ser967=
XM_006724581.2:c.3597+613C>T XP_006724644.1:n.3597+613C>T
XM_006724582.2:c.3597+613C>T XP_006724645.1:n.3597+613C>T
XM_006724583.2:c.3547+1152C>T XP_006724646.1:n.3547+1152C>T
XM_006724584.2:c.*1C>T XP_006724647.1:n.*1C>T
XM_011530772.1:c.2838C>T XP_011529074.1:p.Ser946=
XM_011530773.1:c.2805C>T XP_011529075.1:p.Ser935=
XM_011530775.1:c.3547+1152C>T XP_011529077.1:n.3547+1152C>T
XM_006724579.3:c.3612C>T XP_006724642.1:p.Ser1204=
XM_006724580.3:c.2901C>T XP_006724643.1:p.Ser967=
XM_006724581.4:c.3597+613C>T XP_006724644.1:n.3597+613C>T
XM_006724582.4:c.3597+613C>T XP_006724645.1:n.3597+613C>T
XM_006724583.4:c.3547+1152C>T XP_006724646.1:n.3547+1152C>T
XM_006724584.3:c.*1C>T XP_006724647.1:n.*1C>T
XM_011530773.2:c.2805C>T XP_011529075.1:p.Ser935=
XM_017029359.2:c.3486C>T XP_016884848.1:p.Ser1162=
XM_017029360.1:c.3018C>T XP_016884849.1:p.Ser1006=
NM_001111125.3:c.3516C>T MANE Select NP_001104595.1:p.Ser1172=
NM_015075.2:c.*1C>T NP_055890.1:n.*1C>T