Canonical Allele Identifier: CA413142924

Gene: IQSEC2

Linked Data

• MyVariant Identifiers: chrX:g.53264358A>G (hg19) ; chrX:g.53235176A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235176A>G , CM000685.2:g.53235176A>G	GRCh38
NC_000023.10:g.53264358A>G , CM000685.1:g.53264358A>G	GRCh37
NC_000023.9:g.53281083A>G	NCBI36
NG_021296.1:g.91165T>C
NG_021296.2:g.91175T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3669T>C	ENSP00000516672.1:p.Val1223=
ENST00000638521.1:c.1453+607T>C
ENST00000638869.1:c.962+607T>C
ENST00000639796.1:c.316+1146T>C	ENSP00000492252.1:n.316+1146T>C
ENST00000640005.1:c.514+1146T>C	ENSP00000491293.1:n.514+1146T>C
ENST00000640436.1:n.490T>C
ENST00000640694.1:c.3460T>C	ENSP00000492403.1:p.Tyr1154His
ENST00000642864.1:c.3510T>C MANE Select	ENSP00000495726.1:p.Val1170=
ENST00000674510.1:c.3510T>C	ENSP00000502054.1:p.Val1170=
ENST00000675719.1:c.3480T>C	ENSP00000501927.1:p.Val1160=
ENST00000375365.2:c.2845T>C	ENSP00000364514.2:p.Tyr949His
ENST00000396435.7:c.3510T>C	ENSP00000379712.3:p.Val1170=
NM_001111125.2:c.3510T>C	NP_001104595.1:p.Val1170=
NM_015075.1:c.2845T>C	NP_055890.1:p.Tyr949His
XM_006724579.2:c.3606T>C	XP_006724642.1:p.Val1202=
XM_006724580.2:c.2895T>C	XP_006724643.1:p.Val965=
XM_006724581.2:c.3597+607T>C	XP_006724644.1:n.3597+607T>C
XM_006724582.2:c.3597+607T>C	XP_006724645.1:n.3597+607T>C
XM_006724583.2:c.3547+1146T>C	XP_006724646.1:n.3547+1146T>C
XM_006724584.2:c.3556T>C	XP_006724647.1:p.Tyr1186His
XM_011530772.1:c.2832T>C	XP_011529074.1:p.Val944=
XM_011530773.1:c.2799T>C	XP_011529075.1:p.Val933=
XM_011530775.1:c.3547+1146T>C	XP_011529077.1:n.3547+1146T>C
XM_006724579.3:c.3606T>C	XP_006724642.1:p.Val1202=
XM_006724580.3:c.2895T>C	XP_006724643.1:p.Val965=
XM_006724581.4:c.3597+607T>C	XP_006724644.1:n.3597+607T>C
XM_006724582.4:c.3597+607T>C	XP_006724645.1:n.3597+607T>C
XM_006724583.4:c.3547+1146T>C	XP_006724646.1:n.3547+1146T>C
XM_006724584.3:c.3556T>C	XP_006724647.1:p.Tyr1186His
XM_011530773.2:c.2799T>C	XP_011529075.1:p.Val933=
XM_017029359.2:c.3480T>C	XP_016884848.1:p.Val1160=
XM_017029360.1:c.3012T>C	XP_016884849.1:p.Val1004=
NM_001111125.3:c.3510T>C MANE Select	NP_001104595.1:p.Val1170=
NM_015075.2:c.2845T>C	NP_055890.1:p.Tyr949His