Canonical Allele Identifier: CA516425310
Gene: IQSEC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.53271080G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53241898G>T , CM000685.2:g.53241898G>T GRCh38
NC_000023.10:g.53271080G>T , CM000685.1:g.53271080G>T GRCh37
NC_000023.9:g.53287805G>T NCBI36
NG_021296.1:g.84443C>A
NG_021296.2:g.84453C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3060C>A ENSP00000516672.1:p.Leu1020=
ENST00000638521.1:c.853C>A
ENST00000638869.1:c.362C>A
ENST00000639642.1:c.191C>A
ENST00000640694.1:c.2901C>A ENSP00000492403.1:p.Leu967=
ENST00000642864.1:c.2901C>A MANE Select ENSP00000495726.1:p.Leu967=
ENST00000674510.1:c.2901C>A ENSP00000502054.1:p.Leu967=
ENST00000674761.1:n.1208C>A
ENST00000675719.1:c.2871C>A ENSP00000501927.1:p.Leu957=
ENST00000375365.2:c.2286C>A ENSP00000364514.2:p.Leu762=
ENST00000396435.7:c.2901C>A ENSP00000379712.3:p.Leu967=
NM_001111125.2:c.2901C>A NP_001104595.1:p.Leu967=
NM_015075.1:c.2286C>A NP_055890.1:p.Leu762=
XM_006724579.2:c.2997C>A XP_006724642.1:p.Leu999=
XM_006724580.2:c.2286C>A XP_006724643.1:p.Leu762=
XM_006724581.2:c.2997C>A XP_006724644.1:p.Leu999=
XM_006724582.2:c.2997C>A XP_006724645.1:p.Leu999=
XM_006724583.2:c.2997C>A XP_006724646.1:p.Leu999=
XM_006724584.2:c.2997C>A XP_006724647.1:p.Leu999=
XM_011530772.1:c.2223C>A XP_011529074.1:p.Leu741=
XM_011530773.1:c.2190C>A XP_011529075.1:p.Leu730=
XM_011530774.1:c.2997C>A XP_011529076.1:p.Leu999=
XM_011530775.1:c.2997C>A XP_011529077.1:p.Leu999=
XM_011530776.1:c.2997C>A XP_011529078.1:p.Leu999=
XM_011530777.1:c.2997C>A XP_011529079.1:p.Leu999=
XR_938365.1:n.3224C>A
XM_006724579.3:c.2997C>A XP_006724642.1:p.Leu999=
XM_006724580.3:c.2286C>A XP_006724643.1:p.Leu762=
XM_006724581.4:c.2997C>A XP_006724644.1:p.Leu999=
XM_006724582.4:c.2997C>A XP_006724645.1:p.Leu999=
XM_006724583.4:c.2997C>A XP_006724646.1:p.Leu999=
XM_006724584.3:c.2997C>A XP_006724647.1:p.Leu999=
XM_011530773.2:c.2190C>A XP_011529075.1:p.Leu730=
XM_011530774.3:c.2997C>A XP_011529076.1:p.Leu999=
XM_011530776.2:c.2997C>A XP_011529078.1:p.Leu999=
XM_011530777.2:c.2997C>A XP_011529079.1:p.Leu999=
XM_017029359.2:c.2871C>A XP_016884848.1:p.Leu957=
XM_017029360.1:c.2403C>A XP_016884849.1:p.Leu801=
XR_938365.2:n.3218C>A
NM_001111125.3:c.2901C>A MANE Select NP_001104595.1:p.Leu967=
NM_015075.2:c.2286C>A NP_055890.1:p.Leu762=