Canonical Allele Identifier: CA10420138

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 1719912
• ClinVar RCV Id: RCV002304071 ; RCV003223754
• dbSNP Id: rs782534407
• ExAC: X:53285154 G / T
• gnomAD v4: X-53255972-G-T
• MyVariant Identifiers: chrX:g.53285154G>T (hg19) ; chrX:g.53255972G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53255972G>T , CM000685.2:g.53255972G>T	GRCh38
NC_000023.10:g.53285154G>T , CM000685.1:g.53285154G>T	GRCh37
NC_000023.9:g.53301879G>T	NCBI36
NG_021296.1:g.70369C>A
NG_021296.2:g.70379C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.986C>A	ENSP00000516672.1:p.Pro329His
ENST00000638630.1:c.116C>A	ENSP00000492390.1:p.Pro39His
ENST00000640694.1:c.827C>A	ENSP00000492403.1:p.Pro276His
ENST00000642864.1:c.827C>A MANE Select	ENSP00000495726.1:p.Pro276His
ENST00000674510.1:c.827C>A	ENSP00000502054.1:p.Pro276His
ENST00000675719.1:c.797C>A	ENSP00000501927.1:p.Pro266His
ENST00000375365.2:c.212C>A	ENSP00000364514.2:p.Pro71His
ENST00000396435.7:c.827C>A	ENSP00000379712.3:p.Pro276His
NM_001111125.2:c.827C>A	NP_001104595.1:p.Pro276His
NM_015075.1:c.212C>A	NP_055890.1:p.Pro71His
XM_006724579.2:c.923C>A	XP_006724642.1:p.Pro308His
XM_006724580.2:c.212C>A	XP_006724643.1:p.Pro71His
XM_006724581.2:c.923C>A	XP_006724644.1:p.Pro308His
XM_006724582.2:c.923C>A	XP_006724645.1:p.Pro308His
XM_006724583.2:c.923C>A	XP_006724646.1:p.Pro308His
XM_006724584.2:c.923C>A	XP_006724647.1:p.Pro308His
XM_011530772.1:c.149C>A	XP_011529074.1:p.Pro50His
XM_011530773.1:c.116C>A	XP_011529075.1:p.Pro39His
XM_011530774.1:c.923C>A	XP_011529076.1:p.Pro308His
XM_011530775.1:c.923C>A	XP_011529077.1:p.Pro308His
XM_011530776.1:c.923C>A	XP_011529078.1:p.Pro308His
XM_011530777.1:c.923C>A	XP_011529079.1:p.Pro308His
XR_938365.1:n.1150C>A
XM_006724579.3:c.923C>A	XP_006724642.1:p.Pro308His
XM_006724580.3:c.212C>A	XP_006724643.1:p.Pro71His
XM_006724581.4:c.923C>A	XP_006724644.1:p.Pro308His
XM_006724582.4:c.923C>A	XP_006724645.1:p.Pro308His
XM_006724583.4:c.923C>A	XP_006724646.1:p.Pro308His
XM_006724584.3:c.923C>A	XP_006724647.1:p.Pro308His
XM_011530773.2:c.116C>A	XP_011529075.1:p.Pro39His
XM_011530774.3:c.923C>A	XP_011529076.1:p.Pro308His
XM_011530776.2:c.923C>A	XP_011529078.1:p.Pro308His
XM_011530777.2:c.923C>A	XP_011529079.1:p.Pro308His
XM_017029359.2:c.797C>A	XP_016884848.1:p.Pro266His
XM_017029360.1:c.329C>A	XP_016884849.1:p.Pro110His
XR_938365.2:n.1144C>A
NM_001111125.3:c.827C>A MANE Select	NP_001104595.1:p.Pro276His
NM_015075.2:c.212C>A	NP_055890.1:p.Pro71His