Canonical Allele Identifier: CA413172328

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53256032-A-G
• MyVariant Identifiers: chrX:g.53285214A>G (hg19) ; chrX:g.53256032A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53256032A>G , CM000685.2:g.53256032A>G	GRCh38
NC_000023.10:g.53285214A>G , CM000685.1:g.53285214A>G	GRCh37
NC_000023.9:g.53301939A>G	NCBI36
NG_021296.1:g.70309T>C
NG_021296.2:g.70319T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.926T>C	ENSP00000516672.1:p.Leu309Pro
ENST00000638630.1:c.56T>C	ENSP00000492390.1:p.Leu19Pro
ENST00000640694.1:c.767T>C	ENSP00000492403.1:p.Leu256Pro
ENST00000642864.1:c.767T>C MANE Select	ENSP00000495726.1:p.Leu256Pro
ENST00000674510.1:c.767T>C	ENSP00000502054.1:p.Leu256Pro
ENST00000675719.1:c.737T>C	ENSP00000501927.1:p.Leu246Pro
ENST00000375365.2:c.152T>C	ENSP00000364514.2:p.Leu51Pro
ENST00000396435.7:c.767T>C	ENSP00000379712.3:p.Leu256Pro
NM_001111125.2:c.767T>C	NP_001104595.1:p.Leu256Pro
NM_015075.1:c.152T>C	NP_055890.1:p.Leu51Pro
XM_006724579.2:c.863T>C	XP_006724642.1:p.Leu288Pro
XM_006724580.2:c.152T>C	XP_006724643.1:p.Leu51Pro
XM_006724581.2:c.863T>C	XP_006724644.1:p.Leu288Pro
XM_006724582.2:c.863T>C	XP_006724645.1:p.Leu288Pro
XM_006724583.2:c.863T>C	XP_006724646.1:p.Leu288Pro
XM_006724584.2:c.863T>C	XP_006724647.1:p.Leu288Pro
XM_011530772.1:c.89T>C	XP_011529074.1:p.Leu30Pro
XM_011530773.1:c.56T>C	XP_011529075.1:p.Leu19Pro
XM_011530774.1:c.863T>C	XP_011529076.1:p.Leu288Pro
XM_011530775.1:c.863T>C	XP_011529077.1:p.Leu288Pro
XM_011530776.1:c.863T>C	XP_011529078.1:p.Leu288Pro
XM_011530777.1:c.863T>C	XP_011529079.1:p.Leu288Pro
XR_938365.1:n.1090T>C
XM_006724579.3:c.863T>C	XP_006724642.1:p.Leu288Pro
XM_006724580.3:c.152T>C	XP_006724643.1:p.Leu51Pro
XM_006724581.4:c.863T>C	XP_006724644.1:p.Leu288Pro
XM_006724582.4:c.863T>C	XP_006724645.1:p.Leu288Pro
XM_006724583.4:c.863T>C	XP_006724646.1:p.Leu288Pro
XM_006724584.3:c.863T>C	XP_006724647.1:p.Leu288Pro
XM_011530773.2:c.56T>C	XP_011529075.1:p.Leu19Pro
XM_011530774.3:c.863T>C	XP_011529076.1:p.Leu288Pro
XM_011530776.2:c.863T>C	XP_011529078.1:p.Leu288Pro
XM_011530777.2:c.863T>C	XP_011529079.1:p.Leu288Pro
XM_017029359.2:c.737T>C	XP_016884848.1:p.Leu246Pro
XM_017029360.1:c.269T>C	XP_016884849.1:p.Leu90Pro
XR_938365.2:n.1084T>C
NM_001111125.3:c.767T>C MANE Select	NP_001104595.1:p.Leu256Pro
NM_015075.2:c.152T>C	NP_055890.1:p.Leu51Pro