Canonical Allele Identifier: CA516673847

Gene: IQSEC2

Linked Data

• COSMIC: COSM6032015 ; COSM6032016
• MyVariant Identifiers: chrX:g.53264223C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235041C>T , CM000685.2:g.53235041C>T	GRCh38
NC_000023.10:g.53264223C>T , CM000685.1:g.53264223C>T	GRCh37
NC_000023.9:g.53280948C>T	NCBI36
NG_021296.1:g.91300G>A
NG_021296.2:g.91310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3804G>A	ENSP00000516672.1:p.Lys1268=
ENST00000638521.1:c.1453+742G>A
ENST00000638869.1:c.962+742G>A
ENST00000639796.1:c.316+1281G>A	ENSP00000492252.1:n.316+1281G>A
ENST00000640005.1:c.514+1281G>A	ENSP00000491293.1:n.514+1281G>A
ENST00000640694.1:c.*130G>A	ENSP00000492403.1:n.*130G>A
ENST00000642864.1:c.3645G>A MANE Select	ENSP00000495726.1:p.Lys1215=
ENST00000674510.1:c.3645G>A	ENSP00000502054.1:p.Lys1215=
ENST00000675719.1:c.3615G>A	ENSP00000501927.1:p.Lys1205=
ENST00000375365.2:c.*130G>A	ENSP00000364514.2:n.*130G>A
ENST00000396435.7:c.3645G>A	ENSP00000379712.3:p.Lys1215=
NM_001111125.2:c.3645G>A	NP_001104595.1:p.Lys1215=
NM_015075.1:c.*130G>A	NP_055890.1:n.*130G>A
XM_006724579.2:c.3741G>A	XP_006724642.1:p.Lys1247=
XM_006724580.2:c.3030G>A	XP_006724643.1:p.Lys1010=
XM_006724581.2:c.3597+742G>A	XP_006724644.1:n.3597+742G>A
XM_006724582.2:c.3597+742G>A	XP_006724645.1:n.3597+742G>A
XM_006724583.2:c.3547+1281G>A	XP_006724646.1:n.3547+1281G>A
XM_006724584.2:c.*130G>A	XP_006724647.1:n.*130G>A
XM_011530772.1:c.2967G>A	XP_011529074.1:p.Lys989=
XM_011530773.1:c.2934G>A	XP_011529075.1:p.Lys978=
XM_011530775.1:c.3547+1281G>A	XP_011529077.1:n.3547+1281G>A
XM_006724579.3:c.3741G>A	XP_006724642.1:p.Lys1247=
XM_006724580.3:c.3030G>A	XP_006724643.1:p.Lys1010=
XM_006724581.4:c.3597+742G>A	XP_006724644.1:n.3597+742G>A
XM_006724582.4:c.3597+742G>A	XP_006724645.1:n.3597+742G>A
XM_006724583.4:c.3547+1281G>A	XP_006724646.1:n.3547+1281G>A
XM_006724584.3:c.*130G>A	XP_006724647.1:n.*130G>A
XM_011530773.2:c.2934G>A	XP_011529075.1:p.Lys978=
XM_017029359.2:c.3615G>A	XP_016884848.1:p.Lys1205=
XM_017029360.1:c.3147G>A	XP_016884849.1:p.Lys1049=
NM_001111125.3:c.3645G>A MANE Select	NP_001104595.1:p.Lys1215=
NM_015075.2:c.*130G>A	NP_055890.1:n.*130G>A