Canonical Allele Identifier: CA413142849

Gene: IQSEC2

Linked Data

• MyVariant Identifiers: chrX:g.53264353C>G (hg19) ; chrX:g.53235171C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235171C>G , CM000685.2:g.53235171C>G	GRCh38
NC_000023.10:g.53264353C>G , CM000685.1:g.53264353C>G	GRCh37
NC_000023.9:g.53281078C>G	NCBI36
NG_021296.1:g.91170G>C
NG_021296.2:g.91180G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3674G>C	ENSP00000516672.1:p.Ser1225Thr
ENST00000638521.1:c.1453+612G>C
ENST00000638869.1:c.962+612G>C
ENST00000639796.1:c.316+1151G>C	ENSP00000492252.1:n.316+1151G>C
ENST00000640005.1:c.514+1151G>C	ENSP00000491293.1:n.514+1151G>C
ENST00000640436.1:n.495G>C
ENST00000640694.1:c.3465G>C	ENSP00000492403.1:p.Ter1155Tyr
ENST00000642864.1:c.3515G>C MANE Select	ENSP00000495726.1:p.Ser1172Thr
ENST00000674510.1:c.3515G>C	ENSP00000502054.1:p.Ser1172Thr
ENST00000675719.1:c.3485G>C	ENSP00000501927.1:p.Ser1162Thr
ENST00000375365.2:c.2850G>C	ENSP00000364514.2:p.Ter950Tyr
ENST00000396435.7:c.3515G>C	ENSP00000379712.3:p.Ser1172Thr
NM_001111125.2:c.3515G>C	NP_001104595.1:p.Ser1172Thr
NM_015075.1:c.2850G>C	NP_055890.1:p.Ter950Tyr
XM_006724579.2:c.3611G>C	XP_006724642.1:p.Ser1204Thr
XM_006724580.2:c.2900G>C	XP_006724643.1:p.Ser967Thr
XM_006724581.2:c.3597+612G>C	XP_006724644.1:n.3597+612G>C
XM_006724582.2:c.3597+612G>C	XP_006724645.1:n.3597+612G>C
XM_006724583.2:c.3547+1151G>C	XP_006724646.1:n.3547+1151G>C
XM_006724584.2:c.3561G>C	XP_006724647.1:p.Ter1187Tyr
XM_011530772.1:c.2837G>C	XP_011529074.1:p.Ser946Thr
XM_011530773.1:c.2804G>C	XP_011529075.1:p.Ser935Thr
XM_011530775.1:c.3547+1151G>C	XP_011529077.1:n.3547+1151G>C
XM_006724579.3:c.3611G>C	XP_006724642.1:p.Ser1204Thr
XM_006724580.3:c.2900G>C	XP_006724643.1:p.Ser967Thr
XM_006724581.4:c.3597+612G>C	XP_006724644.1:n.3597+612G>C
XM_006724582.4:c.3597+612G>C	XP_006724645.1:n.3597+612G>C
XM_006724583.4:c.3547+1151G>C	XP_006724646.1:n.3547+1151G>C
XM_006724584.3:c.3561G>C	XP_006724647.1:p.Ter1187Tyr
XM_011530773.2:c.2804G>C	XP_011529075.1:p.Ser935Thr
XM_017029359.2:c.3485G>C	XP_016884848.1:p.Ser1162Thr
XM_017029360.1:c.3017G>C	XP_016884849.1:p.Ser1006Thr
NM_001111125.3:c.3515G>C MANE Select	NP_001104595.1:p.Ser1172Thr
NM_015075.2:c.2850G>C	NP_055890.1:p.Ter950Tyr