Canonical Allele Identifier: CA413142435

Gene: IQSEC2

Linked Data

• MyVariant Identifiers: chrX:g.53264306G>C (hg19) ; chrX:g.53235124G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235124G>C , CM000685.2:g.53235124G>C	GRCh38
NC_000023.10:g.53264306G>C , CM000685.1:g.53264306G>C	GRCh37
NC_000023.9:g.53281031G>C	NCBI36
NG_021296.1:g.91217C>G
NG_021296.2:g.91227C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3721C>G	ENSP00000516672.1:p.Pro1241Ala
ENST00000638521.1:c.1453+659C>G
ENST00000638869.1:c.962+659C>G
ENST00000639796.1:c.316+1198C>G	ENSP00000492252.1:n.316+1198C>G
ENST00000640005.1:c.514+1198C>G	ENSP00000491293.1:n.514+1198C>G
ENST00000640436.1:n.542C>G
ENST00000640694.1:c.*47C>G	ENSP00000492403.1:n.*47C>G
ENST00000642864.1:c.3562C>G MANE Select	ENSP00000495726.1:p.Pro1188Ala
ENST00000674510.1:c.3562C>G	ENSP00000502054.1:p.Pro1188Ala
ENST00000675719.1:c.3532C>G	ENSP00000501927.1:p.Pro1178Ala
ENST00000375365.2:c.*47C>G	ENSP00000364514.2:n.*47C>G
ENST00000396435.7:c.3562C>G	ENSP00000379712.3:p.Pro1188Ala
NM_001111125.2:c.3562C>G	NP_001104595.1:p.Pro1188Ala
NM_015075.1:c.*47C>G	NP_055890.1:n.*47C>G
XM_006724579.2:c.3658C>G	XP_006724642.1:p.Pro1220Ala
XM_006724580.2:c.2947C>G	XP_006724643.1:p.Pro983Ala
XM_006724581.2:c.3597+659C>G	XP_006724644.1:n.3597+659C>G
XM_006724582.2:c.3597+659C>G	XP_006724645.1:n.3597+659C>G
XM_006724583.2:c.3547+1198C>G	XP_006724646.1:n.3547+1198C>G
XM_006724584.2:c.*47C>G	XP_006724647.1:n.*47C>G
XM_011530772.1:c.2884C>G	XP_011529074.1:p.Pro962Ala
XM_011530773.1:c.2851C>G	XP_011529075.1:p.Pro951Ala
XM_011530775.1:c.3547+1198C>G	XP_011529077.1:n.3547+1198C>G
XM_006724579.3:c.3658C>G	XP_006724642.1:p.Pro1220Ala
XM_006724580.3:c.2947C>G	XP_006724643.1:p.Pro983Ala
XM_006724581.4:c.3597+659C>G	XP_006724644.1:n.3597+659C>G
XM_006724582.4:c.3597+659C>G	XP_006724645.1:n.3597+659C>G
XM_006724583.4:c.3547+1198C>G	XP_006724646.1:n.3547+1198C>G
XM_006724584.3:c.*47C>G	XP_006724647.1:n.*47C>G
XM_011530773.2:c.2851C>G	XP_011529075.1:p.Pro951Ala
XM_017029359.2:c.3532C>G	XP_016884848.1:p.Pro1178Ala
XM_017029360.1:c.3064C>G	XP_016884849.1:p.Pro1022Ala
NM_001111125.3:c.3562C>G MANE Select	NP_001104595.1:p.Pro1188Ala
NM_015075.2:c.*47C>G	NP_055890.1:n.*47C>G