Canonical Allele Identifier: CA516424617
Gene: IQSEC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.53270984G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53241802G>C , CM000685.2:g.53241802G>C GRCh38
NC_000023.10:g.53270984G>C , CM000685.1:g.53270984G>C GRCh37
NC_000023.9:g.53287709G>C NCBI36
NG_021296.1:g.84539C>G
NG_021296.2:g.84549C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3156C>G ENSP00000516672.1:p.Leu1052=
ENST00000638521.1:c.949C>G
ENST00000638869.1:c.458C>G
ENST00000639642.1:c.287C>G
ENST00000640005.1:c.60C>G ENSP00000491293.1:p.Leu20=
ENST00000640694.1:c.2997C>G ENSP00000492403.1:p.Leu999=
ENST00000642864.1:c.2997C>G MANE Select ENSP00000495726.1:p.Leu999=
ENST00000674510.1:c.2997C>G ENSP00000502054.1:p.Leu999=
ENST00000674761.1:n.1304C>G
ENST00000675719.1:c.2967C>G ENSP00000501927.1:p.Leu989=
ENST00000375365.2:c.2382C>G ENSP00000364514.2:p.Leu794=
ENST00000396435.7:c.2997C>G ENSP00000379712.3:p.Leu999=
NM_001111125.2:c.2997C>G NP_001104595.1:p.Leu999=
NM_015075.1:c.2382C>G NP_055890.1:p.Leu794=
XM_006724579.2:c.3093C>G XP_006724642.1:p.Leu1031=
XM_006724580.2:c.2382C>G XP_006724643.1:p.Leu794=
XM_006724581.2:c.3093C>G XP_006724644.1:p.Leu1031=
XM_006724582.2:c.3093C>G XP_006724645.1:p.Leu1031=
XM_006724583.2:c.3093C>G XP_006724646.1:p.Leu1031=
XM_006724584.2:c.3093C>G XP_006724647.1:p.Leu1031=
XM_011530772.1:c.2319C>G XP_011529074.1:p.Leu773=
XM_011530773.1:c.2286C>G XP_011529075.1:p.Leu762=
XM_011530774.1:c.3093C>G XP_011529076.1:p.Leu1031=
XM_011530775.1:c.3093C>G XP_011529077.1:p.Leu1031=
XM_011530776.1:c.3093C>G XP_011529078.1:p.Leu1031=
XM_011530777.1:c.3093C>G XP_011529079.1:p.Leu1031=
XR_938365.1:n.3320C>G
XM_006724579.3:c.3093C>G XP_006724642.1:p.Leu1031=
XM_006724580.3:c.2382C>G XP_006724643.1:p.Leu794=
XM_006724581.4:c.3093C>G XP_006724644.1:p.Leu1031=
XM_006724582.4:c.3093C>G XP_006724645.1:p.Leu1031=
XM_006724583.4:c.3093C>G XP_006724646.1:p.Leu1031=
XM_006724584.3:c.3093C>G XP_006724647.1:p.Leu1031=
XM_011530773.2:c.2286C>G XP_011529075.1:p.Leu762=
XM_011530774.3:c.3093C>G XP_011529076.1:p.Leu1031=
XM_011530776.2:c.3093C>G XP_011529078.1:p.Leu1031=
XM_011530777.2:c.3093C>G XP_011529079.1:p.Leu1031=
XM_017029359.2:c.2967C>G XP_016884848.1:p.Leu989=
XM_017029360.1:c.2499C>G XP_016884849.1:p.Leu833=
XR_938365.2:n.3314C>G
NM_001111125.3:c.2997C>G MANE Select NP_001104595.1:p.Leu999=
NM_015075.2:c.2382C>G NP_055890.1:p.Leu794=