Canonical Allele Identifier: CA413140314

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53234808-G-T
• MyVariant Identifiers: chrX:g.53263990G>T (hg19) ; chrX:g.53234808G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53234808G>T , CM000685.2:g.53234808G>T	GRCh38
NC_000023.10:g.53263990G>T , CM000685.1:g.53263990G>T	GRCh37
NC_000023.9:g.53280715G>T	NCBI36
NG_021296.1:g.91533C>A
NG_021296.2:g.91543C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706952.1:c.4037C>A	ENSP00000516672.1:p.Pro1346His
ENST00000638521.1:c.1453+975C>A
ENST00000638869.1:c.962+975C>A
ENST00000639796.1:c.316+1514C>A	ENSP00000492252.1:n.316+1514C>A
ENST00000640005.1:c.514+1514C>A	ENSP00000491293.1:n.514+1514C>A
ENST00000640694.1:c.*363C>A	ENSP00000492403.1:n.*363C>A
ENST00000642864.1:c.3878C>A MANE Select	ENSP00000495726.1:p.Pro1293His
ENST00000674510.1:c.3878C>A	ENSP00000502054.1:p.Pro1293His
ENST00000675719.1:c.3848C>A	ENSP00000501927.1:p.Pro1283His
ENST00000375365.2:c.*363C>A	ENSP00000364514.2:n.*363C>A
ENST00000396435.7:c.3878C>A	ENSP00000379712.3:p.Pro1293His
NM_001111125.2:c.3878C>A	NP_001104595.1:p.Pro1293His
NM_015075.1:c.*363C>A	NP_055890.1:n.*363C>A
XM_006724579.2:c.3974C>A	XP_006724642.1:p.Pro1325His
XM_006724580.2:c.3263C>A	XP_006724643.1:p.Pro1088His
XM_006724581.2:c.3597+975C>A	XP_006724644.1:n.3597+975C>A
XM_006724582.2:c.3597+975C>A	XP_006724645.1:n.3597+975C>A
XM_006724583.2:c.3547+1514C>A	XP_006724646.1:n.3547+1514C>A
XM_006724584.2:c.*363C>A	XP_006724647.1:n.*363C>A
XM_011530772.1:c.3200C>A	XP_011529074.1:p.Pro1067His
XM_011530773.1:c.3167C>A	XP_011529075.1:p.Pro1056His
XM_011530775.1:c.3547+1514C>A	XP_011529077.1:n.3547+1514C>A
XM_006724579.3:c.3974C>A	XP_006724642.1:p.Pro1325His
XM_006724580.3:c.3263C>A	XP_006724643.1:p.Pro1088His
XM_006724581.4:c.3597+975C>A	XP_006724644.1:n.3597+975C>A
XM_006724582.4:c.3597+975C>A	XP_006724645.1:n.3597+975C>A
XM_006724583.4:c.3547+1514C>A	XP_006724646.1:n.3547+1514C>A
XM_006724584.3:c.*363C>A	XP_006724647.1:n.*363C>A
XM_011530773.2:c.3167C>A	XP_011529075.1:p.Pro1056His
XM_017029359.2:c.3848C>A	XP_016884848.1:p.Pro1283His
XM_017029360.1:c.3380C>A	XP_016884849.1:p.Pro1127His
NM_001111125.3:c.3878C>A MANE Select	NP_001104595.1:p.Pro1293His
NM_015075.2:c.*363C>A	NP_055890.1:n.*363C>A