Canonical Allele Identifier: CA413158321

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53248810-G-C
• MyVariant Identifiers: chrX:g.53277992G>C (hg19) ; chrX:g.53248810G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53248810G>C , CM000685.2:g.53248810G>C	GRCh38
NC_000023.10:g.53277992G>C , CM000685.1:g.53277992G>C	GRCh37
NC_000023.9:g.53294717G>C	NCBI36
NG_021296.1:g.77531C>G
NG_021296.2:g.77541C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.2529C>G	ENSP00000516672.1:p.His843Gln
ENST00000638521.1:c.322C>G
ENST00000640694.1:c.2370C>G	ENSP00000492403.1:p.His790Gln
ENST00000642864.1:c.2370C>G MANE Select	ENSP00000495726.1:p.His790Gln
ENST00000674510.1:c.2370C>G	ENSP00000502054.1:p.His790Gln
ENST00000675719.1:c.2340C>G	ENSP00000501927.1:p.His780Gln
ENST00000375365.2:c.1755C>G	ENSP00000364514.2:p.His585Gln
ENST00000396435.7:c.2370C>G	ENSP00000379712.3:p.His790Gln
NM_001111125.2:c.2370C>G	NP_001104595.1:p.His790Gln
NM_015075.1:c.1755C>G	NP_055890.1:p.His585Gln
XM_006724579.2:c.2466C>G	XP_006724642.1:p.His822Gln
XM_006724580.2:c.1755C>G	XP_006724643.1:p.His585Gln
XM_006724581.2:c.2466C>G	XP_006724644.1:p.His822Gln
XM_006724582.2:c.2466C>G	XP_006724645.1:p.His822Gln
XM_006724583.2:c.2466C>G	XP_006724646.1:p.His822Gln
XM_006724584.2:c.2466C>G	XP_006724647.1:p.His822Gln
XM_011530772.1:c.1692C>G	XP_011529074.1:p.His564Gln
XM_011530773.1:c.1659C>G	XP_011529075.1:p.His553Gln
XM_011530774.1:c.2466C>G	XP_011529076.1:p.His822Gln
XM_011530775.1:c.2466C>G	XP_011529077.1:p.His822Gln
XM_011530776.1:c.2466C>G	XP_011529078.1:p.His822Gln
XM_011530777.1:c.2466C>G	XP_011529079.1:p.His822Gln
XR_938365.1:n.2693C>G
XM_006724579.3:c.2466C>G	XP_006724642.1:p.His822Gln
XM_006724580.3:c.1755C>G	XP_006724643.1:p.His585Gln
XM_006724581.4:c.2466C>G	XP_006724644.1:p.His822Gln
XM_006724582.4:c.2466C>G	XP_006724645.1:p.His822Gln
XM_006724583.4:c.2466C>G	XP_006724646.1:p.His822Gln
XM_006724584.3:c.2466C>G	XP_006724647.1:p.His822Gln
XM_011530773.2:c.1659C>G	XP_011529075.1:p.His553Gln
XM_011530774.3:c.2466C>G	XP_011529076.1:p.His822Gln
XM_011530776.2:c.2466C>G	XP_011529078.1:p.His822Gln
XM_011530777.2:c.2466C>G	XP_011529079.1:p.His822Gln
XM_017029359.2:c.2340C>G	XP_016884848.1:p.His780Gln
XM_017029360.1:c.1872C>G	XP_016884849.1:p.His624Gln
XR_938365.2:n.2687C>G
NM_001111125.3:c.2370C>G MANE Select	NP_001104595.1:p.His790Gln
NM_015075.2:c.1755C>G	NP_055890.1:p.His585Gln