Canonical Allele Identifier: CA413172522

Gene: IQSEC2

Linked Data

• MyVariant Identifiers: chrX:g.53285242C>G (hg19) ; chrX:g.53256060C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53256060C>G , CM000685.2:g.53256060C>G	GRCh38
NC_000023.10:g.53285242C>G , CM000685.1:g.53285242C>G	GRCh37
NC_000023.9:g.53301967C>G	NCBI36
NG_021296.1:g.70281G>C
NG_021296.2:g.70291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.898G>C	ENSP00000516672.1:p.Val300Leu
ENST00000638630.1:c.28G>C	ENSP00000492390.1:p.Val10Leu
ENST00000640694.1:c.739G>C	ENSP00000492403.1:p.Val247Leu
ENST00000642864.1:c.739G>C MANE Select	ENSP00000495726.1:p.Val247Leu
ENST00000674510.1:c.739G>C	ENSP00000502054.1:p.Val247Leu
ENST00000675719.1:c.709G>C	ENSP00000501927.1:p.Val237Leu
ENST00000375365.2:c.124G>C	ENSP00000364514.2:p.Val42Leu
ENST00000396435.7:c.739G>C	ENSP00000379712.3:p.Val247Leu
NM_001111125.2:c.739G>C	NP_001104595.1:p.Val247Leu
NM_015075.1:c.124G>C	NP_055890.1:p.Val42Leu
XM_006724579.2:c.835G>C	XP_006724642.1:p.Val279Leu
XM_006724580.2:c.124G>C	XP_006724643.1:p.Val42Leu
XM_006724581.2:c.835G>C	XP_006724644.1:p.Val279Leu
XM_006724582.2:c.835G>C	XP_006724645.1:p.Val279Leu
XM_006724583.2:c.835G>C	XP_006724646.1:p.Val279Leu
XM_006724584.2:c.835G>C	XP_006724647.1:p.Val279Leu
XM_011530772.1:c.61G>C	XP_011529074.1:p.Val21Leu
XM_011530773.1:c.28G>C	XP_011529075.1:p.Val10Leu
XM_011530774.1:c.835G>C	XP_011529076.1:p.Val279Leu
XM_011530775.1:c.835G>C	XP_011529077.1:p.Val279Leu
XM_011530776.1:c.835G>C	XP_011529078.1:p.Val279Leu
XM_011530777.1:c.835G>C	XP_011529079.1:p.Val279Leu
XR_938365.1:n.1062G>C
XM_006724579.3:c.835G>C	XP_006724642.1:p.Val279Leu
XM_006724580.3:c.124G>C	XP_006724643.1:p.Val42Leu
XM_006724581.4:c.835G>C	XP_006724644.1:p.Val279Leu
XM_006724582.4:c.835G>C	XP_006724645.1:p.Val279Leu
XM_006724583.4:c.835G>C	XP_006724646.1:p.Val279Leu
XM_006724584.3:c.835G>C	XP_006724647.1:p.Val279Leu
XM_011530773.2:c.28G>C	XP_011529075.1:p.Val10Leu
XM_011530774.3:c.835G>C	XP_011529076.1:p.Val279Leu
XM_011530776.2:c.835G>C	XP_011529078.1:p.Val279Leu
XM_011530777.2:c.835G>C	XP_011529079.1:p.Val279Leu
XM_017029359.2:c.709G>C	XP_016884848.1:p.Val237Leu
XM_017029360.1:c.241G>C	XP_016884849.1:p.Val81Leu
XR_938365.2:n.1056G>C
NM_001111125.3:c.739G>C MANE Select	NP_001104595.1:p.Val247Leu
NM_015075.2:c.124G>C	NP_055890.1:p.Val42Leu