Canonical Allele Identifier: CA413140319

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53234809-G-T
• MyVariant Identifiers: chrX:g.53263991G>T (hg19) ; chrX:g.53234809G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53234809G>T , CM000685.2:g.53234809G>T	GRCh38
NC_000023.10:g.53263991G>T , CM000685.1:g.53263991G>T	GRCh37
NC_000023.9:g.53280716G>T	NCBI36
NG_021296.1:g.91532C>A
NG_021296.2:g.91542C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706952.1:c.4036C>A	ENSP00000516672.1:p.Pro1346Thr
ENST00000638521.1:c.1453+974C>A
ENST00000638869.1:c.962+974C>A
ENST00000639796.1:c.316+1513C>A	ENSP00000492252.1:n.316+1513C>A
ENST00000640005.1:c.514+1513C>A	ENSP00000491293.1:n.514+1513C>A
ENST00000640694.1:c.*362C>A	ENSP00000492403.1:n.*362C>A
ENST00000642864.1:c.3877C>A MANE Select	ENSP00000495726.1:p.Pro1293Thr
ENST00000674510.1:c.3877C>A	ENSP00000502054.1:p.Pro1293Thr
ENST00000675719.1:c.3847C>A	ENSP00000501927.1:p.Pro1283Thr
ENST00000375365.2:c.*362C>A	ENSP00000364514.2:n.*362C>A
ENST00000396435.7:c.3877C>A	ENSP00000379712.3:p.Pro1293Thr
NM_001111125.2:c.3877C>A	NP_001104595.1:p.Pro1293Thr
NM_015075.1:c.*362C>A	NP_055890.1:n.*362C>A
XM_006724579.2:c.3973C>A	XP_006724642.1:p.Pro1325Thr
XM_006724580.2:c.3262C>A	XP_006724643.1:p.Pro1088Thr
XM_006724581.2:c.3597+974C>A	XP_006724644.1:n.3597+974C>A
XM_006724582.2:c.3597+974C>A	XP_006724645.1:n.3597+974C>A
XM_006724583.2:c.3547+1513C>A	XP_006724646.1:n.3547+1513C>A
XM_006724584.2:c.*362C>A	XP_006724647.1:n.*362C>A
XM_011530772.1:c.3199C>A	XP_011529074.1:p.Pro1067Thr
XM_011530773.1:c.3166C>A	XP_011529075.1:p.Pro1056Thr
XM_011530775.1:c.3547+1513C>A	XP_011529077.1:n.3547+1513C>A
XM_006724579.3:c.3973C>A	XP_006724642.1:p.Pro1325Thr
XM_006724580.3:c.3262C>A	XP_006724643.1:p.Pro1088Thr
XM_006724581.4:c.3597+974C>A	XP_006724644.1:n.3597+974C>A
XM_006724582.4:c.3597+974C>A	XP_006724645.1:n.3597+974C>A
XM_006724583.4:c.3547+1513C>A	XP_006724646.1:n.3547+1513C>A
XM_006724584.3:c.*362C>A	XP_006724647.1:n.*362C>A
XM_011530773.2:c.3166C>A	XP_011529075.1:p.Pro1056Thr
XM_017029359.2:c.3847C>A	XP_016884848.1:p.Pro1283Thr
XM_017029360.1:c.3379C>A	XP_016884849.1:p.Pro1127Thr
NM_001111125.3:c.3877C>A MANE Select	NP_001104595.1:p.Pro1293Thr
NM_015075.2:c.*362C>A	NP_055890.1:n.*362C>A