Canonical Allele Identifier: CA516674080
Gene: IQSEC2 HGNC NCBI

Linked Data

gnomAD v4: X-53250713-A-G
MyVariant Identifiers: chrX:g.53279895A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53250713A>G , CM000685.2:g.53250713A>G GRCh38
NC_000023.10:g.53279895A>G , CM000685.1:g.53279895A>G GRCh37
NC_000023.9:g.53296620A>G NCBI36
NG_021296.1:g.75628T>C
NG_021296.2:g.75638T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.2022T>C ENSP00000516672.1:p.Tyr674=
ENST00000640694.1:c.1863T>C ENSP00000492403.1:p.Tyr621=
ENST00000642864.1:c.1863T>C MANE Select ENSP00000495726.1:p.Tyr621=
ENST00000674510.1:c.1863T>C ENSP00000502054.1:p.Tyr621=
ENST00000675719.1:c.1833T>C ENSP00000501927.1:p.Tyr611=
ENST00000375365.2:c.1248T>C ENSP00000364514.2:p.Tyr416=
ENST00000396435.7:c.1863T>C ENSP00000379712.3:p.Tyr621=
NM_001111125.2:c.1863T>C NP_001104595.1:p.Tyr621=
NM_015075.1:c.1248T>C NP_055890.1:p.Tyr416=
XM_006724579.2:c.1959T>C XP_006724642.1:p.Tyr653=
XM_006724580.2:c.1248T>C XP_006724643.1:p.Tyr416=
XM_006724581.2:c.1959T>C XP_006724644.1:p.Tyr653=
XM_006724582.2:c.1959T>C XP_006724645.1:p.Tyr653=
XM_006724583.2:c.1959T>C XP_006724646.1:p.Tyr653=
XM_006724584.2:c.1959T>C XP_006724647.1:p.Tyr653=
XM_011530772.1:c.1185T>C XP_011529074.1:p.Tyr395=
XM_011530773.1:c.1152T>C XP_011529075.1:p.Tyr384=
XM_011530774.1:c.1959T>C XP_011529076.1:p.Tyr653=
XM_011530775.1:c.1959T>C XP_011529077.1:p.Tyr653=
XM_011530776.1:c.1959T>C XP_011529078.1:p.Tyr653=
XM_011530777.1:c.1959T>C XP_011529079.1:p.Tyr653=
XR_938365.1:n.2186T>C
XM_006724579.3:c.1959T>C XP_006724642.1:p.Tyr653=
XM_006724580.3:c.1248T>C XP_006724643.1:p.Tyr416=
XM_006724581.4:c.1959T>C XP_006724644.1:p.Tyr653=
XM_006724582.4:c.1959T>C XP_006724645.1:p.Tyr653=
XM_006724583.4:c.1959T>C XP_006724646.1:p.Tyr653=
XM_006724584.3:c.1959T>C XP_006724647.1:p.Tyr653=
XM_011530773.2:c.1152T>C XP_011529075.1:p.Tyr384=
XM_011530774.3:c.1959T>C XP_011529076.1:p.Tyr653=
XM_011530776.2:c.1959T>C XP_011529078.1:p.Tyr653=
XM_011530777.2:c.1959T>C XP_011529079.1:p.Tyr653=
XM_017029359.2:c.1833T>C XP_016884848.1:p.Tyr611=
XM_017029360.1:c.1365T>C XP_016884849.1:p.Tyr455=
XR_938365.2:n.2180T>C
NM_001111125.3:c.1863T>C MANE Select NP_001104595.1:p.Tyr621=
NM_015075.2:c.1248T>C NP_055890.1:p.Tyr416=