Canonical Allele Identifier: CA516428080
Gene: IQSEC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.53277310G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53248128G>A , CM000685.2:g.53248128G>A GRCh38
NC_000023.10:g.53277310G>A , CM000685.1:g.53277310G>A GRCh37
NC_000023.9:g.53294035G>A NCBI36
NG_021296.1:g.78213C>T
NG_021296.2:g.78223C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.2727C>T ENSP00000516672.1:p.Leu909=
ENST00000638521.1:c.520C>T
ENST00000638869.1:c.29C>T
ENST00000640694.1:c.2568C>T ENSP00000492403.1:p.Leu856=
ENST00000642864.1:c.2568C>T MANE Select ENSP00000495726.1:p.Leu856=
ENST00000674510.1:c.2568C>T ENSP00000502054.1:p.Leu856=
ENST00000674761.1:n.319C>T
ENST00000675719.1:c.2538C>T ENSP00000501927.1:p.Leu846=
ENST00000375365.2:c.1953C>T ENSP00000364514.2:p.Leu651=
ENST00000396435.7:c.2568C>T ENSP00000379712.3:p.Leu856=
NM_001111125.2:c.2568C>T NP_001104595.1:p.Leu856=
NM_015075.1:c.1953C>T NP_055890.1:p.Leu651=
XM_006724579.2:c.2664C>T XP_006724642.1:p.Leu888=
XM_006724580.2:c.1953C>T XP_006724643.1:p.Leu651=
XM_006724581.2:c.2664C>T XP_006724644.1:p.Leu888=
XM_006724582.2:c.2664C>T XP_006724645.1:p.Leu888=
XM_006724583.2:c.2664C>T XP_006724646.1:p.Leu888=
XM_006724584.2:c.2664C>T XP_006724647.1:p.Leu888=
XM_011530772.1:c.1890C>T XP_011529074.1:p.Leu630=
XM_011530773.1:c.1857C>T XP_011529075.1:p.Leu619=
XM_011530774.1:c.2664C>T XP_011529076.1:p.Leu888=
XM_011530775.1:c.2664C>T XP_011529077.1:p.Leu888=
XM_011530776.1:c.2664C>T XP_011529078.1:p.Leu888=
XM_011530777.1:c.2664C>T XP_011529079.1:p.Leu888=
XR_938365.1:n.2891C>T
XM_006724579.3:c.2664C>T XP_006724642.1:p.Leu888=
XM_006724580.3:c.1953C>T XP_006724643.1:p.Leu651=
XM_006724581.4:c.2664C>T XP_006724644.1:p.Leu888=
XM_006724582.4:c.2664C>T XP_006724645.1:p.Leu888=
XM_006724583.4:c.2664C>T XP_006724646.1:p.Leu888=
XM_006724584.3:c.2664C>T XP_006724647.1:p.Leu888=
XM_011530773.2:c.1857C>T XP_011529075.1:p.Leu619=
XM_011530774.3:c.2664C>T XP_011529076.1:p.Leu888=
XM_011530776.2:c.2664C>T XP_011529078.1:p.Leu888=
XM_011530777.2:c.2664C>T XP_011529079.1:p.Leu888=
XM_017029359.2:c.2538C>T XP_016884848.1:p.Leu846=
XM_017029360.1:c.2070C>T XP_016884849.1:p.Leu690=
XR_938365.2:n.2885C>T
NM_001111125.3:c.2568C>T MANE Select NP_001104595.1:p.Leu856=
NM_015075.2:c.1953C>T NP_055890.1:p.Leu651=