Canonical Allele Identifier: CA516673916

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235074-G-A
• MyVariant Identifiers: chrX:g.53264256G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235074G>A , CM000685.2:g.53235074G>A	GRCh38
NC_000023.10:g.53264256G>A , CM000685.1:g.53264256G>A	GRCh37
NC_000023.9:g.53280981G>A	NCBI36
NG_021296.1:g.91267C>T
NG_021296.2:g.91277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3771C>T	ENSP00000516672.1:p.Phe1257=
ENST00000638521.1:c.1453+709C>T
ENST00000638869.1:c.962+709C>T
ENST00000639796.1:c.316+1248C>T	ENSP00000492252.1:n.316+1248C>T
ENST00000640005.1:c.514+1248C>T	ENSP00000491293.1:n.514+1248C>T
ENST00000640694.1:c.*97C>T	ENSP00000492403.1:n.*97C>T
ENST00000642864.1:c.3612C>T MANE Select	ENSP00000495726.1:p.Phe1204=
ENST00000674510.1:c.3612C>T	ENSP00000502054.1:p.Phe1204=
ENST00000675719.1:c.3582C>T	ENSP00000501927.1:p.Phe1194=
ENST00000375365.2:c.*97C>T	ENSP00000364514.2:n.*97C>T
ENST00000396435.7:c.3612C>T	ENSP00000379712.3:p.Phe1204=
NM_001111125.2:c.3612C>T	NP_001104595.1:p.Phe1204=
NM_015075.1:c.*97C>T	NP_055890.1:n.*97C>T
XM_006724579.2:c.3708C>T	XP_006724642.1:p.Phe1236=
XM_006724580.2:c.2997C>T	XP_006724643.1:p.Phe999=
XM_006724581.2:c.3597+709C>T	XP_006724644.1:n.3597+709C>T
XM_006724582.2:c.3597+709C>T	XP_006724645.1:n.3597+709C>T
XM_006724583.2:c.3547+1248C>T	XP_006724646.1:n.3547+1248C>T
XM_006724584.2:c.*97C>T	XP_006724647.1:n.*97C>T
XM_011530772.1:c.2934C>T	XP_011529074.1:p.Phe978=
XM_011530773.1:c.2901C>T	XP_011529075.1:p.Phe967=
XM_011530775.1:c.3547+1248C>T	XP_011529077.1:n.3547+1248C>T
XM_006724579.3:c.3708C>T	XP_006724642.1:p.Phe1236=
XM_006724580.3:c.2997C>T	XP_006724643.1:p.Phe999=
XM_006724581.4:c.3597+709C>T	XP_006724644.1:n.3597+709C>T
XM_006724582.4:c.3597+709C>T	XP_006724645.1:n.3597+709C>T
XM_006724583.4:c.3547+1248C>T	XP_006724646.1:n.3547+1248C>T
XM_006724584.3:c.*97C>T	XP_006724647.1:n.*97C>T
XM_011530773.2:c.2901C>T	XP_011529075.1:p.Phe967=
XM_017029359.2:c.3582C>T	XP_016884848.1:p.Phe1194=
XM_017029360.1:c.3114C>T	XP_016884849.1:p.Phe1038=
NM_001111125.3:c.3612C>T MANE Select	NP_001104595.1:p.Phe1204=
NM_015075.2:c.*97C>T	NP_055890.1:n.*97C>T