Canonical Allele Identifier: CA516426119
Gene: IQSEC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.53272514T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53243332T>G , CM000685.2:g.53243332T>G GRCh38
NC_000023.10:g.53272514T>G , CM000685.1:g.53272514T>G GRCh37
NC_000023.9:g.53289239T>G NCBI36
NG_021296.1:g.83009A>C
NG_021296.2:g.83019A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3048A>C ENSP00000516672.1:p.Pro1016=
ENST00000638521.1:c.841A>C
ENST00000638869.1:c.350A>C
ENST00000639642.1:c.179A>C
ENST00000640694.1:c.2889A>C ENSP00000492403.1:p.Pro963=
ENST00000642864.1:c.2889A>C MANE Select ENSP00000495726.1:p.Pro963=
ENST00000674510.1:c.2889A>C ENSP00000502054.1:p.Pro963=
ENST00000674761.1:n.640A>C
ENST00000675719.1:c.2859A>C ENSP00000501927.1:p.Pro953=
ENST00000375365.2:c.2274A>C ENSP00000364514.2:p.Pro758=
ENST00000396435.7:c.2889A>C ENSP00000379712.3:p.Pro963=
NM_001111125.2:c.2889A>C NP_001104595.1:p.Pro963=
NM_015075.1:c.2274A>C NP_055890.1:p.Pro758=
XM_006724579.2:c.2985A>C XP_006724642.1:p.Pro995=
XM_006724580.2:c.2274A>C XP_006724643.1:p.Pro758=
XM_006724581.2:c.2985A>C XP_006724644.1:p.Pro995=
XM_006724582.2:c.2985A>C XP_006724645.1:p.Pro995=
XM_006724583.2:c.2985A>C XP_006724646.1:p.Pro995=
XM_006724584.2:c.2985A>C XP_006724647.1:p.Pro995=
XM_011530772.1:c.2211A>C XP_011529074.1:p.Pro737=
XM_011530773.1:c.2178A>C XP_011529075.1:p.Pro726=
XM_011530774.1:c.2985A>C XP_011529076.1:p.Pro995=
XM_011530775.1:c.2985A>C XP_011529077.1:p.Pro995=
XM_011530776.1:c.2985A>C XP_011529078.1:p.Pro995=
XM_011530777.1:c.2985A>C XP_011529079.1:p.Pro995=
XR_938365.1:n.3212A>C
XM_006724579.3:c.2985A>C XP_006724642.1:p.Pro995=
XM_006724580.3:c.2274A>C XP_006724643.1:p.Pro758=
XM_006724581.4:c.2985A>C XP_006724644.1:p.Pro995=
XM_006724582.4:c.2985A>C XP_006724645.1:p.Pro995=
XM_006724583.4:c.2985A>C XP_006724646.1:p.Pro995=
XM_006724584.3:c.2985A>C XP_006724647.1:p.Pro995=
XM_011530773.2:c.2178A>C XP_011529075.1:p.Pro726=
XM_011530774.3:c.2985A>C XP_011529076.1:p.Pro995=
XM_011530776.2:c.2985A>C XP_011529078.1:p.Pro995=
XM_011530777.2:c.2985A>C XP_011529079.1:p.Pro995=
XM_017029359.2:c.2859A>C XP_016884848.1:p.Pro953=
XM_017029360.1:c.2391A>C XP_016884849.1:p.Pro797=
XR_938365.2:n.3206A>C
NM_001111125.3:c.2889A>C MANE Select NP_001104595.1:p.Pro963=
NM_015075.2:c.2274A>C NP_055890.1:p.Pro758=