Canonical Allele Identifier: CA10420124

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 1084589
• ClinVar RCV Id: RCV001401662
• dbSNP Id: rs782803496
• ExAC: X:53285024 T / C
• gnomAD v2: X-53285024-T-C
• gnomAD v3: X-53255842-T-C
• gnomAD v4: X-53255842-T-C
• MyVariant Identifiers: chrX:g.53285024T>C (hg19) ; chrX:g.53255842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53255842T>C , CM000685.2:g.53255842T>C	GRCh38
NC_000023.10:g.53285024T>C , CM000685.1:g.53285024T>C	GRCh37
NC_000023.9:g.53301749T>C	NCBI36
NG_021296.1:g.70499A>G
NG_021296.2:g.70509A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.1116A>G	ENSP00000516672.1:p.Leu372=
ENST00000638630.1:c.246A>G	ENSP00000492390.1:p.Leu82=
ENST00000640694.1:c.957A>G	ENSP00000492403.1:p.Leu319=
ENST00000642864.1:c.957A>G MANE Select	ENSP00000495726.1:p.Leu319=
ENST00000674510.1:c.957A>G	ENSP00000502054.1:p.Leu319=
ENST00000675719.1:c.927A>G	ENSP00000501927.1:p.Leu309=
ENST00000375365.2:c.342A>G	ENSP00000364514.2:p.Leu114=
ENST00000396435.7:c.957A>G	ENSP00000379712.3:p.Leu319=
NM_001111125.2:c.957A>G	NP_001104595.1:p.Leu319=
NM_015075.1:c.342A>G	NP_055890.1:p.Leu114=
XM_006724579.2:c.1053A>G	XP_006724642.1:p.Leu351=
XM_006724580.2:c.342A>G	XP_006724643.1:p.Leu114=
XM_006724581.2:c.1053A>G	XP_006724644.1:p.Leu351=
XM_006724582.2:c.1053A>G	XP_006724645.1:p.Leu351=
XM_006724583.2:c.1053A>G	XP_006724646.1:p.Leu351=
XM_006724584.2:c.1053A>G	XP_006724647.1:p.Leu351=
XM_011530772.1:c.279A>G	XP_011529074.1:p.Leu93=
XM_011530773.1:c.246A>G	XP_011529075.1:p.Leu82=
XM_011530774.1:c.1053A>G	XP_011529076.1:p.Leu351=
XM_011530775.1:c.1053A>G	XP_011529077.1:p.Leu351=
XM_011530776.1:c.1053A>G	XP_011529078.1:p.Leu351=
XM_011530777.1:c.1053A>G	XP_011529079.1:p.Leu351=
XR_938365.1:n.1280A>G
XM_006724579.3:c.1053A>G	XP_006724642.1:p.Leu351=
XM_006724580.3:c.342A>G	XP_006724643.1:p.Leu114=
XM_006724581.4:c.1053A>G	XP_006724644.1:p.Leu351=
XM_006724582.4:c.1053A>G	XP_006724645.1:p.Leu351=
XM_006724583.4:c.1053A>G	XP_006724646.1:p.Leu351=
XM_006724584.3:c.1053A>G	XP_006724647.1:p.Leu351=
XM_011530773.2:c.246A>G	XP_011529075.1:p.Leu82=
XM_011530774.3:c.1053A>G	XP_011529076.1:p.Leu351=
XM_011530776.2:c.1053A>G	XP_011529078.1:p.Leu351=
XM_011530777.2:c.1053A>G	XP_011529079.1:p.Leu351=
XM_017029359.2:c.927A>G	XP_016884848.1:p.Leu309=
XM_017029360.1:c.459A>G	XP_016884849.1:p.Leu153=
XR_938365.2:n.1274A>G
NM_001111125.3:c.957A>G MANE Select	NP_001104595.1:p.Leu319=
NM_015075.2:c.342A>G	NP_055890.1:p.Leu114=