Canonical Allele Identifier: CA413171148

Gene: IQSEC2

Linked Data

• MyVariant Identifiers: chrX:g.53285016C>A (hg19) ; chrX:g.53255834C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53255834C>A , CM000685.2:g.53255834C>A	GRCh38
NC_000023.10:g.53285016C>A , CM000685.1:g.53285016C>A	GRCh37
NC_000023.9:g.53301741C>A	NCBI36
NG_021296.1:g.70507G>T
NG_021296.2:g.70517G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.1124G>T	ENSP00000516672.1:p.Ser375Ile
ENST00000638630.1:c.254G>T	ENSP00000492390.1:p.Ser85Ile
ENST00000640694.1:c.965G>T	ENSP00000492403.1:p.Ser322Ile
ENST00000642864.1:c.965G>T MANE Select	ENSP00000495726.1:p.Ser322Ile
ENST00000674510.1:c.965G>T	ENSP00000502054.1:p.Ser322Ile
ENST00000675719.1:c.935G>T	ENSP00000501927.1:p.Ser312Ile
ENST00000375365.2:c.350G>T	ENSP00000364514.2:p.Ser117Ile
ENST00000396435.7:c.965G>T	ENSP00000379712.3:p.Ser322Ile
NM_001111125.2:c.965G>T	NP_001104595.1:p.Ser322Ile
NM_015075.1:c.350G>T	NP_055890.1:p.Ser117Ile
XM_006724579.2:c.1061G>T	XP_006724642.1:p.Ser354Ile
XM_006724580.2:c.350G>T	XP_006724643.1:p.Ser117Ile
XM_006724581.2:c.1061G>T	XP_006724644.1:p.Ser354Ile
XM_006724582.2:c.1061G>T	XP_006724645.1:p.Ser354Ile
XM_006724583.2:c.1061G>T	XP_006724646.1:p.Ser354Ile
XM_006724584.2:c.1061G>T	XP_006724647.1:p.Ser354Ile
XM_011530772.1:c.287G>T	XP_011529074.1:p.Ser96Ile
XM_011530773.1:c.254G>T	XP_011529075.1:p.Ser85Ile
XM_011530774.1:c.1061G>T	XP_011529076.1:p.Ser354Ile
XM_011530775.1:c.1061G>T	XP_011529077.1:p.Ser354Ile
XM_011530776.1:c.1061G>T	XP_011529078.1:p.Ser354Ile
XM_011530777.1:c.1061G>T	XP_011529079.1:p.Ser354Ile
XR_938365.1:n.1288G>T
XM_006724579.3:c.1061G>T	XP_006724642.1:p.Ser354Ile
XM_006724580.3:c.350G>T	XP_006724643.1:p.Ser117Ile
XM_006724581.4:c.1061G>T	XP_006724644.1:p.Ser354Ile
XM_006724582.4:c.1061G>T	XP_006724645.1:p.Ser354Ile
XM_006724583.4:c.1061G>T	XP_006724646.1:p.Ser354Ile
XM_006724584.3:c.1061G>T	XP_006724647.1:p.Ser354Ile
XM_011530773.2:c.254G>T	XP_011529075.1:p.Ser85Ile
XM_011530774.3:c.1061G>T	XP_011529076.1:p.Ser354Ile
XM_011530776.2:c.1061G>T	XP_011529078.1:p.Ser354Ile
XM_011530777.2:c.1061G>T	XP_011529079.1:p.Ser354Ile
XM_017029359.2:c.935G>T	XP_016884848.1:p.Ser312Ile
XM_017029360.1:c.467G>T	XP_016884849.1:p.Ser156Ile
XR_938365.2:n.1282G>T
NM_001111125.3:c.965G>T MANE Select	NP_001104595.1:p.Ser322Ile
NM_015075.2:c.350G>T	NP_055890.1:p.Ser117Ile