Canonical Allele Identifier: CA413140347

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53234817-A-C
• MyVariant Identifiers: chrX:g.53263999A>C (hg19) ; chrX:g.53234817A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53234817A>C , CM000685.2:g.53234817A>C	GRCh38
NC_000023.10:g.53263999A>C , CM000685.1:g.53263999A>C	GRCh37
NC_000023.9:g.53280724A>C	NCBI36
NG_021296.1:g.91524T>G
NG_021296.2:g.91534T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.4028T>G	ENSP00000516672.1:p.Leu1343Arg
ENST00000638521.1:c.1453+966T>G
ENST00000638869.1:c.962+966T>G
ENST00000639796.1:c.316+1505T>G	ENSP00000492252.1:n.316+1505T>G
ENST00000640005.1:c.514+1505T>G	ENSP00000491293.1:n.514+1505T>G
ENST00000640694.1:c.*354T>G	ENSP00000492403.1:n.*354T>G
ENST00000642864.1:c.3869T>G MANE Select	ENSP00000495726.1:p.Leu1290Arg
ENST00000674510.1:c.3869T>G	ENSP00000502054.1:p.Leu1290Arg
ENST00000675719.1:c.3839T>G	ENSP00000501927.1:p.Leu1280Arg
ENST00000375365.2:c.*354T>G	ENSP00000364514.2:n.*354T>G
ENST00000396435.7:c.3869T>G	ENSP00000379712.3:p.Leu1290Arg
NM_001111125.2:c.3869T>G	NP_001104595.1:p.Leu1290Arg
NM_015075.1:c.*354T>G	NP_055890.1:n.*354T>G
XM_006724579.2:c.3965T>G	XP_006724642.1:p.Leu1322Arg
XM_006724580.2:c.3254T>G	XP_006724643.1:p.Leu1085Arg
XM_006724581.2:c.3597+966T>G	XP_006724644.1:n.3597+966T>G
XM_006724582.2:c.3597+966T>G	XP_006724645.1:n.3597+966T>G
XM_006724583.2:c.3547+1505T>G	XP_006724646.1:n.3547+1505T>G
XM_006724584.2:c.*354T>G	XP_006724647.1:n.*354T>G
XM_011530772.1:c.3191T>G	XP_011529074.1:p.Leu1064Arg
XM_011530773.1:c.3158T>G	XP_011529075.1:p.Leu1053Arg
XM_011530775.1:c.3547+1505T>G	XP_011529077.1:n.3547+1505T>G
XM_006724579.3:c.3965T>G	XP_006724642.1:p.Leu1322Arg
XM_006724580.3:c.3254T>G	XP_006724643.1:p.Leu1085Arg
XM_006724581.4:c.3597+966T>G	XP_006724644.1:n.3597+966T>G
XM_006724582.4:c.3597+966T>G	XP_006724645.1:n.3597+966T>G
XM_006724583.4:c.3547+1505T>G	XP_006724646.1:n.3547+1505T>G
XM_006724584.3:c.*354T>G	XP_006724647.1:n.*354T>G
XM_011530773.2:c.3158T>G	XP_011529075.1:p.Leu1053Arg
XM_017029359.2:c.3839T>G	XP_016884848.1:p.Leu1280Arg
XM_017029360.1:c.3371T>G	XP_016884849.1:p.Leu1124Arg
NM_001111125.3:c.3869T>G MANE Select	NP_001104595.1:p.Leu1290Arg
NM_015075.2:c.*354T>G	NP_055890.1:n.*354T>G