Canonical Allele Identifier: CA16621439
Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421942
ClinVar RCV Id: RCV000479004
dbSNP Id: rs1064795460
MyVariant Identifiers: chrX:g.53263982G>A (hg19) chrX:g.53234800G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53234800G>A , CM000685.2:g.53234800G>A GRCh38
NC_000023.10:g.53263982G>A , CM000685.1:g.53263982G>A GRCh37
NC_000023.9:g.53280707G>A NCBI36
NG_021296.1:g.91541C>T
NG_021296.2:g.91551C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.4045C>T ENSP00000516672.1:p.Gln1349Ter
ENST00000638521.1:c.1453+983C>T
ENST00000638869.1:c.962+983C>T
ENST00000639796.1:c.316+1522C>T ENSP00000492252.1:n.316+1522C>T
ENST00000640005.1:c.514+1522C>T ENSP00000491293.1:n.514+1522C>T
ENST00000640694.1:c.*371C>T ENSP00000492403.1:n.*371C>T
ENST00000642864.1:c.3886C>T MANE Select ENSP00000495726.1:p.Gln1296Ter
ENST00000674510.1:c.3886C>T ENSP00000502054.1:p.Gln1296Ter
ENST00000675719.1:c.3856C>T ENSP00000501927.1:p.Gln1286Ter
ENST00000375365.2:c.*371C>T ENSP00000364514.2:n.*371C>T
ENST00000396435.7:c.3886C>T ENSP00000379712.3:p.Gln1296Ter
NM_001111125.2:c.3886C>T NP_001104595.1:p.Gln1296Ter
NM_015075.1:c.*371C>T NP_055890.1:n.*371C>T
XM_006724579.2:c.3982C>T XP_006724642.1:p.Gln1328Ter
XM_006724580.2:c.3271C>T XP_006724643.1:p.Gln1091Ter
XM_006724581.2:c.3597+983C>T XP_006724644.1:n.3597+983C>T
XM_006724582.2:c.3597+983C>T XP_006724645.1:n.3597+983C>T
XM_006724583.2:c.3547+1522C>T XP_006724646.1:n.3547+1522C>T
XM_006724584.2:c.*371C>T XP_006724647.1:n.*371C>T
XM_011530772.1:c.3208C>T XP_011529074.1:p.Gln1070Ter
XM_011530773.1:c.3175C>T XP_011529075.1:p.Gln1059Ter
XM_011530775.1:c.3547+1522C>T XP_011529077.1:n.3547+1522C>T
XM_006724579.3:c.3982C>T XP_006724642.1:p.Gln1328Ter
XM_006724580.3:c.3271C>T XP_006724643.1:p.Gln1091Ter
XM_006724581.4:c.3597+983C>T XP_006724644.1:n.3597+983C>T
XM_006724582.4:c.3597+983C>T XP_006724645.1:n.3597+983C>T
XM_006724583.4:c.3547+1522C>T XP_006724646.1:n.3547+1522C>T
XM_006724584.3:c.*371C>T XP_006724647.1:n.*371C>T
XM_011530773.2:c.3175C>T XP_011529075.1:p.Gln1059Ter
XM_017029359.2:c.3856C>T XP_016884848.1:p.Gln1286Ter
XM_017029360.1:c.3388C>T XP_016884849.1:p.Gln1130Ter
NM_001111125.3:c.3886C>T MANE Select NP_001104595.1:p.Gln1296Ter
NM_015075.2:c.*371C>T NP_055890.1:n.*371C>T
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