Canonical Allele Identifier: CA2429770723

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 1152128
• ClinVar RCV Id: RCV001493314
• dbSNP Id: rs2074108627
• gnomAD v4: X-53235193-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235193G>A , CM000685.2:g.53235193G>A	GRCh38
NC_000023.10:g.53264375G>A , CM000685.1:g.53264375G>A	GRCh37
NC_000023.9:g.53281100G>A	NCBI36
NG_021296.1:g.91148C>T
NG_021296.2:g.91158C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3661-9C>T	ENSP00000516672.1:n.3661-9C>T
ENST00000638521.1:c.1453+590C>T
ENST00000638869.1:c.962+590C>T
ENST00000639796.1:c.316+1129C>T	ENSP00000492252.1:n.316+1129C>T
ENST00000640005.1:c.514+1129C>T	ENSP00000491293.1:n.514+1129C>T
ENST00000640436.1:n.482-9C>T
ENST00000640694.1:c.3452-9C>T	ENSP00000492403.1:n.3452-9C>T
ENST00000642864.1:c.3502-9C>T MANE Select	ENSP00000495726.1:n.3502-9C>T
ENST00000674510.1:c.3502-9C>T	ENSP00000502054.1:n.3502-9C>T
ENST00000675719.1:c.3472-9C>T	ENSP00000501927.1:n.3472-9C>T
ENST00000375365.2:c.2837-9C>T	ENSP00000364514.2:n.2837-9C>T
ENST00000396435.7:c.3502-9C>T	ENSP00000379712.3:n.3502-9C>T
NM_001111125.2:c.3502-9C>T	NP_001104595.1:n.3502-9C>T
NM_015075.1:c.2837-9C>T	NP_055890.1:n.2837-9C>T
XM_006724579.2:c.3598-9C>T	XP_006724642.1:n.3598-9C>T
XM_006724580.2:c.2887-9C>T	XP_006724643.1:n.2887-9C>T
XM_006724581.2:c.3597+590C>T	XP_006724644.1:n.3597+590C>T
XM_006724582.2:c.3597+590C>T	XP_006724645.1:n.3597+590C>T
XM_006724583.2:c.3547+1129C>T	XP_006724646.1:n.3547+1129C>T
XM_006724584.2:c.3548-9C>T	XP_006724647.1:n.3548-9C>T
XM_011530772.1:c.2824-9C>T	XP_011529074.1:n.2824-9C>T
XM_011530773.1:c.2791-9C>T	XP_011529075.1:n.2791-9C>T
XM_011530775.1:c.3547+1129C>T	XP_011529077.1:n.3547+1129C>T
XM_006724579.3:c.3598-9C>T	XP_006724642.1:n.3598-9C>T
XM_006724580.3:c.2887-9C>T	XP_006724643.1:n.2887-9C>T
XM_006724581.4:c.3597+590C>T	XP_006724644.1:n.3597+590C>T
XM_006724582.4:c.3597+590C>T	XP_006724645.1:n.3597+590C>T
XM_006724583.4:c.3547+1129C>T	XP_006724646.1:n.3547+1129C>T
XM_006724584.3:c.3548-9C>T	XP_006724647.1:n.3548-9C>T
XM_011530773.2:c.2791-9C>T	XP_011529075.1:n.2791-9C>T
XM_017029359.2:c.3472-9C>T	XP_016884848.1:n.3472-9C>T
XM_017029360.1:c.3004-9C>T	XP_016884849.1:n.3004-9C>T
NM_001111125.3:c.3502-9C>T MANE Select	NP_001104595.1:n.3502-9C>T
NM_015075.2:c.2837-9C>T	NP_055890.1:n.2837-9C>T