Canonical Allele Identifier: CA413172534

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 620075
• ClinVar RCV Id: RCV000760290
• gnomAD v4: X-53256062-C-T
• MyVariant Identifiers: chrX:g.53285244C>T (hg19) ; chrX:g.53256062C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53256062C>T , CM000685.2:g.53256062C>T	GRCh38
NC_000023.10:g.53285244C>T , CM000685.1:g.53285244C>T	GRCh37
NC_000023.9:g.53301969C>T	NCBI36
NG_021296.1:g.70279G>A
NG_021296.2:g.70289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.897-1G>A	ENSP00000516672.1:n.897-1G>A
ENST00000638630.1:c.27-1G>A	ENSP00000492390.1:n.27-1G>A
ENST00000640694.1:c.738-1G>A	ENSP00000492403.1:n.738-1G>A
ENST00000642864.1:c.738-1G>A MANE Select	ENSP00000495726.1:n.738-1G>A
ENST00000674510.1:c.738-1G>A	ENSP00000502054.1:n.738-1G>A
ENST00000675719.1:c.708-1G>A	ENSP00000501927.1:n.708-1G>A
ENST00000375365.2:c.123-1G>A	ENSP00000364514.2:n.123-1G>A
ENST00000396435.7:c.738-1G>A	ENSP00000379712.3:n.738-1G>A
NM_001111125.2:c.738-1G>A	NP_001104595.1:n.738-1G>A
NM_015075.1:c.123-1G>A	NP_055890.1:n.123-1G>A
XM_006724579.2:c.834-1G>A	XP_006724642.1:n.834-1G>A
XM_006724580.2:c.123-1G>A	XP_006724643.1:n.123-1G>A
XM_006724581.2:c.834-1G>A	XP_006724644.1:n.834-1G>A
XM_006724582.2:c.834-1G>A	XP_006724645.1:n.834-1G>A
XM_006724583.2:c.834-1G>A	XP_006724646.1:n.834-1G>A
XM_006724584.2:c.834-1G>A	XP_006724647.1:n.834-1G>A
XM_011530772.1:c.60-1G>A	XP_011529074.1:n.60-1G>A
XM_011530773.1:c.27-1G>A	XP_011529075.1:n.27-1G>A
XM_011530774.1:c.834-1G>A	XP_011529076.1:n.834-1G>A
XM_011530775.1:c.834-1G>A	XP_011529077.1:n.834-1G>A
XM_011530776.1:c.834-1G>A	XP_011529078.1:n.834-1G>A
XM_011530777.1:c.834-1G>A	XP_011529079.1:n.834-1G>A
XR_938365.1:n.1061-1G>A
XM_006724579.3:c.834-1G>A	XP_006724642.1:n.834-1G>A
XM_006724580.3:c.123-1G>A	XP_006724643.1:n.123-1G>A
XM_006724581.4:c.834-1G>A	XP_006724644.1:n.834-1G>A
XM_006724582.4:c.834-1G>A	XP_006724645.1:n.834-1G>A
XM_006724583.4:c.834-1G>A	XP_006724646.1:n.834-1G>A
XM_006724584.3:c.834-1G>A	XP_006724647.1:n.834-1G>A
XM_011530773.2:c.27-1G>A	XP_011529075.1:n.27-1G>A
XM_011530774.3:c.834-1G>A	XP_011529076.1:n.834-1G>A
XM_011530776.2:c.834-1G>A	XP_011529078.1:n.834-1G>A
XM_011530777.2:c.834-1G>A	XP_011529079.1:n.834-1G>A
XM_017029359.2:c.708-1G>A	XP_016884848.1:n.708-1G>A
XM_017029360.1:c.240-1G>A	XP_016884849.1:n.240-1G>A
XR_938365.2:n.1055-1G>A
NM_001111125.3:c.738-1G>A MANE Select	NP_001104595.1:n.738-1G>A
NM_015075.2:c.123-1G>A	NP_055890.1:n.123-1G>A