Canonical Allele Identifier: CA516416215
Gene: IQSEC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.53264346T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53235164T>G , CM000685.2:g.53235164T>G GRCh38
NC_000023.10:g.53264346T>G , CM000685.1:g.53264346T>G GRCh37
NC_000023.9:g.53281071T>G NCBI36
NG_021296.1:g.91177A>C
NG_021296.2:g.91187A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3681A>C ENSP00000516672.1:p.Pro1227=
ENST00000638521.1:c.1453+619A>C
ENST00000638869.1:c.962+619A>C
ENST00000639796.1:c.316+1158A>C ENSP00000492252.1:n.316+1158A>C
ENST00000640005.1:c.514+1158A>C ENSP00000491293.1:n.514+1158A>C
ENST00000640436.1:n.502A>C
ENST00000640694.1:c.*7A>C ENSP00000492403.1:n.*7A>C
ENST00000642864.1:c.3522A>C MANE Select ENSP00000495726.1:p.Pro1174=
ENST00000674510.1:c.3522A>C ENSP00000502054.1:p.Pro1174=
ENST00000675719.1:c.3492A>C ENSP00000501927.1:p.Pro1164=
ENST00000375365.2:c.*7A>C ENSP00000364514.2:n.*7A>C
ENST00000396435.7:c.3522A>C ENSP00000379712.3:p.Pro1174=
NM_001111125.2:c.3522A>C NP_001104595.1:p.Pro1174=
NM_015075.1:c.*7A>C NP_055890.1:n.*7A>C
XM_006724579.2:c.3618A>C XP_006724642.1:p.Pro1206=
XM_006724580.2:c.2907A>C XP_006724643.1:p.Pro969=
XM_006724581.2:c.3597+619A>C XP_006724644.1:n.3597+619A>C
XM_006724582.2:c.3597+619A>C XP_006724645.1:n.3597+619A>C
XM_006724583.2:c.3547+1158A>C XP_006724646.1:n.3547+1158A>C
XM_006724584.2:c.*7A>C XP_006724647.1:n.*7A>C
XM_011530772.1:c.2844A>C XP_011529074.1:p.Pro948=
XM_011530773.1:c.2811A>C XP_011529075.1:p.Pro937=
XM_011530775.1:c.3547+1158A>C XP_011529077.1:n.3547+1158A>C
XM_006724579.3:c.3618A>C XP_006724642.1:p.Pro1206=
XM_006724580.3:c.2907A>C XP_006724643.1:p.Pro969=
XM_006724581.4:c.3597+619A>C XP_006724644.1:n.3597+619A>C
XM_006724582.4:c.3597+619A>C XP_006724645.1:n.3597+619A>C
XM_006724583.4:c.3547+1158A>C XP_006724646.1:n.3547+1158A>C
XM_006724584.3:c.*7A>C XP_006724647.1:n.*7A>C
XM_011530773.2:c.2811A>C XP_011529075.1:p.Pro937=
XM_017029359.2:c.3492A>C XP_016884848.1:p.Pro1164=
XM_017029360.1:c.3024A>C XP_016884849.1:p.Pro1008=
NM_001111125.3:c.3522A>C MANE Select NP_001104595.1:p.Pro1174=
NM_015075.2:c.*7A>C NP_055890.1:n.*7A>C