Canonical Allele Identifier: CA206654

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 211206
• ClinVar RCV Id: RCV000193282 ; RCV001721253 ; RCV001516727
• dbSNP Id: rs797045629
• gnomAD v2: X-53264205-T-C
• gnomAD v3: X-53235023-T-C
• gnomAD v4: X-53235023-T-C
• MyVariant Identifiers: chrX:g.53264205T>C (hg19) ; chrX:g.53235023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235023T>C , CM000685.2:g.53235023T>C	GRCh38
NC_000023.10:g.53264205T>C , CM000685.1:g.53264205T>C	GRCh37
NC_000023.9:g.53280930T>C	NCBI36
NG_021296.1:g.91318A>G
NG_021296.2:g.91328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3822A>G	ENSP00000516672.1:p.Pro1274=
ENST00000638521.1:c.1453+760A>G
ENST00000638869.1:c.962+760A>G
ENST00000639796.1:c.316+1299A>G	ENSP00000492252.1:n.316+1299A>G
ENST00000640005.1:c.514+1299A>G	ENSP00000491293.1:n.514+1299A>G
ENST00000640694.1:c.*148A>G	ENSP00000492403.1:n.*148A>G
ENST00000642864.1:c.3663A>G MANE Select	ENSP00000495726.1:p.Pro1221=
ENST00000674510.1:c.3663A>G	ENSP00000502054.1:p.Pro1221=
ENST00000675719.1:c.3633A>G	ENSP00000501927.1:p.Pro1211=
ENST00000375365.2:c.*148A>G	ENSP00000364514.2:n.*148A>G
ENST00000396435.7:c.3663A>G	ENSP00000379712.3:p.Pro1221=
NM_001111125.2:c.3663A>G	NP_001104595.1:p.Pro1221=
NM_015075.1:c.*148A>G	NP_055890.1:n.*148A>G
XM_006724579.2:c.3759A>G	XP_006724642.1:p.Pro1253=
XM_006724580.2:c.3048A>G	XP_006724643.1:p.Pro1016=
XM_006724581.2:c.3597+760A>G	XP_006724644.1:n.3597+760A>G
XM_006724582.2:c.3597+760A>G	XP_006724645.1:n.3597+760A>G
XM_006724583.2:c.3547+1299A>G	XP_006724646.1:n.3547+1299A>G
XM_006724584.2:c.*148A>G	XP_006724647.1:n.*148A>G
XM_011530772.1:c.2985A>G	XP_011529074.1:p.Pro995=
XM_011530773.1:c.2952A>G	XP_011529075.1:p.Pro984=
XM_011530775.1:c.3547+1299A>G	XP_011529077.1:n.3547+1299A>G
XM_006724579.3:c.3759A>G	XP_006724642.1:p.Pro1253=
XM_006724580.3:c.3048A>G	XP_006724643.1:p.Pro1016=
XM_006724581.4:c.3597+760A>G	XP_006724644.1:n.3597+760A>G
XM_006724582.4:c.3597+760A>G	XP_006724645.1:n.3597+760A>G
XM_006724583.4:c.3547+1299A>G	XP_006724646.1:n.3547+1299A>G
XM_006724584.3:c.*148A>G	XP_006724647.1:n.*148A>G
XM_011530773.2:c.2952A>G	XP_011529075.1:p.Pro984=
XM_017029359.2:c.3633A>G	XP_016884848.1:p.Pro1211=
XM_017029360.1:c.3165A>G	XP_016884849.1:p.Pro1055=
NM_001111125.3:c.3663A>G MANE Select	NP_001104595.1:p.Pro1221=
NM_015075.2:c.*148A>G	NP_055890.1:n.*148A>G