Canonical Allele Identifier: CA413142891

Gene: IQSEC2

Linked Data

• MyVariant Identifiers: chrX:g.53264356A>T (hg19) ; chrX:g.53235174A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235174A>T , CM000685.2:g.53235174A>T	GRCh38
NC_000023.10:g.53264356A>T , CM000685.1:g.53264356A>T	GRCh37
NC_000023.9:g.53281081A>T	NCBI36
NG_021296.1:g.91167T>A
NG_021296.2:g.91177T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3671T>A	ENSP00000516672.1:p.Ile1224Asn
ENST00000638521.1:c.1453+609T>A
ENST00000638869.1:c.962+609T>A
ENST00000639796.1:c.316+1148T>A	ENSP00000492252.1:n.316+1148T>A
ENST00000640005.1:c.514+1148T>A	ENSP00000491293.1:n.514+1148T>A
ENST00000640436.1:n.492T>A
ENST00000640694.1:c.3462T>A	ENSP00000492403.1:p.Tyr1154Ter
ENST00000642864.1:c.3512T>A MANE Select	ENSP00000495726.1:p.Ile1171Asn
ENST00000674510.1:c.3512T>A	ENSP00000502054.1:p.Ile1171Asn
ENST00000675719.1:c.3482T>A	ENSP00000501927.1:p.Ile1161Asn
ENST00000375365.2:c.2847T>A	ENSP00000364514.2:p.Tyr949Ter
ENST00000396435.7:c.3512T>A	ENSP00000379712.3:p.Ile1171Asn
NM_001111125.2:c.3512T>A	NP_001104595.1:p.Ile1171Asn
NM_015075.1:c.2847T>A	NP_055890.1:p.Tyr949Ter
XM_006724579.2:c.3608T>A	XP_006724642.1:p.Ile1203Asn
XM_006724580.2:c.2897T>A	XP_006724643.1:p.Ile966Asn
XM_006724581.2:c.3597+609T>A	XP_006724644.1:n.3597+609T>A
XM_006724582.2:c.3597+609T>A	XP_006724645.1:n.3597+609T>A
XM_006724583.2:c.3547+1148T>A	XP_006724646.1:n.3547+1148T>A
XM_006724584.2:c.3558T>A	XP_006724647.1:p.Tyr1186Ter
XM_011530772.1:c.2834T>A	XP_011529074.1:p.Ile945Asn
XM_011530773.1:c.2801T>A	XP_011529075.1:p.Ile934Asn
XM_011530775.1:c.3547+1148T>A	XP_011529077.1:n.3547+1148T>A
XM_006724579.3:c.3608T>A	XP_006724642.1:p.Ile1203Asn
XM_006724580.3:c.2897T>A	XP_006724643.1:p.Ile966Asn
XM_006724581.4:c.3597+609T>A	XP_006724644.1:n.3597+609T>A
XM_006724582.4:c.3597+609T>A	XP_006724645.1:n.3597+609T>A
XM_006724583.4:c.3547+1148T>A	XP_006724646.1:n.3547+1148T>A
XM_006724584.3:c.3558T>A	XP_006724647.1:p.Tyr1186Ter
XM_011530773.2:c.2801T>A	XP_011529075.1:p.Ile934Asn
XM_017029359.2:c.3482T>A	XP_016884848.1:p.Ile1161Asn
XM_017029360.1:c.3014T>A	XP_016884849.1:p.Ile1005Asn
NM_001111125.3:c.3512T>A MANE Select	NP_001104595.1:p.Ile1171Asn
NM_015075.2:c.2847T>A	NP_055890.1:p.Tyr949Ter