Canonical Allele Identifier: CA516673757
Gene: IQSEC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.53264184G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53235002G>A , CM000685.2:g.53235002G>A GRCh38
NC_000023.10:g.53264184G>A , CM000685.1:g.53264184G>A GRCh37
NC_000023.9:g.53280909G>A NCBI36
NG_021296.1:g.91339C>T
NG_021296.2:g.91349C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3843C>T ENSP00000516672.1:p.Ala1281=
ENST00000638521.1:c.1453+781C>T
ENST00000638869.1:c.962+781C>T
ENST00000639796.1:c.316+1320C>T ENSP00000492252.1:n.316+1320C>T
ENST00000640005.1:c.514+1320C>T ENSP00000491293.1:n.514+1320C>T
ENST00000640694.1:c.*169C>T ENSP00000492403.1:n.*169C>T
ENST00000642864.1:c.3684C>T MANE Select ENSP00000495726.1:p.Ala1228=
ENST00000674510.1:c.3684C>T ENSP00000502054.1:p.Ala1228=
ENST00000675719.1:c.3654C>T ENSP00000501927.1:p.Ala1218=
ENST00000375365.2:c.*169C>T ENSP00000364514.2:n.*169C>T
ENST00000396435.7:c.3684C>T ENSP00000379712.3:p.Ala1228=
NM_001111125.2:c.3684C>T NP_001104595.1:p.Ala1228=
NM_015075.1:c.*169C>T NP_055890.1:n.*169C>T
XM_006724579.2:c.3780C>T XP_006724642.1:p.Ala1260=
XM_006724580.2:c.3069C>T XP_006724643.1:p.Ala1023=
XM_006724581.2:c.3597+781C>T XP_006724644.1:n.3597+781C>T
XM_006724582.2:c.3597+781C>T XP_006724645.1:n.3597+781C>T
XM_006724583.2:c.3547+1320C>T XP_006724646.1:n.3547+1320C>T
XM_006724584.2:c.*169C>T XP_006724647.1:n.*169C>T
XM_011530772.1:c.3006C>T XP_011529074.1:p.Ala1002=
XM_011530773.1:c.2973C>T XP_011529075.1:p.Ala991=
XM_011530775.1:c.3547+1320C>T XP_011529077.1:n.3547+1320C>T
XM_006724579.3:c.3780C>T XP_006724642.1:p.Ala1260=
XM_006724580.3:c.3069C>T XP_006724643.1:p.Ala1023=
XM_006724581.4:c.3597+781C>T XP_006724644.1:n.3597+781C>T
XM_006724582.4:c.3597+781C>T XP_006724645.1:n.3597+781C>T
XM_006724583.4:c.3547+1320C>T XP_006724646.1:n.3547+1320C>T
XM_006724584.3:c.*169C>T XP_006724647.1:n.*169C>T
XM_011530773.2:c.2973C>T XP_011529075.1:p.Ala991=
XM_017029359.2:c.3654C>T XP_016884848.1:p.Ala1218=
XM_017029360.1:c.3186C>T XP_016884849.1:p.Ala1062=
NM_001111125.3:c.3684C>T MANE Select NP_001104595.1:p.Ala1228=
NM_015075.2:c.*169C>T NP_055890.1:n.*169C>T