Canonical Allele Identifier: CA516428254
Gene: IQSEC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.53277379C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53248197C>G , CM000685.2:g.53248197C>G GRCh38
NC_000023.10:g.53277379C>G , CM000685.1:g.53277379C>G GRCh37
NC_000023.9:g.53294104C>G NCBI36
NG_021296.1:g.78144G>C
NG_021296.2:g.78154G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.2658G>C ENSP00000516672.1:p.Leu886=
ENST00000638521.1:c.451G>C
ENST00000640694.1:c.2499G>C ENSP00000492403.1:p.Leu833=
ENST00000642864.1:c.2499G>C MANE Select ENSP00000495726.1:p.Leu833=
ENST00000674510.1:c.2499G>C ENSP00000502054.1:p.Leu833=
ENST00000674761.1:n.250G>C
ENST00000675719.1:c.2469G>C ENSP00000501927.1:p.Leu823=
ENST00000375365.2:c.1884G>C ENSP00000364514.2:p.Leu628=
ENST00000396435.7:c.2499G>C ENSP00000379712.3:p.Leu833=
NM_001111125.2:c.2499G>C NP_001104595.1:p.Leu833=
NM_015075.1:c.1884G>C NP_055890.1:p.Leu628=
XM_006724579.2:c.2595G>C XP_006724642.1:p.Leu865=
XM_006724580.2:c.1884G>C XP_006724643.1:p.Leu628=
XM_006724581.2:c.2595G>C XP_006724644.1:p.Leu865=
XM_006724582.2:c.2595G>C XP_006724645.1:p.Leu865=
XM_006724583.2:c.2595G>C XP_006724646.1:p.Leu865=
XM_006724584.2:c.2595G>C XP_006724647.1:p.Leu865=
XM_011530772.1:c.1821G>C XP_011529074.1:p.Leu607=
XM_011530773.1:c.1788G>C XP_011529075.1:p.Leu596=
XM_011530774.1:c.2595G>C XP_011529076.1:p.Leu865=
XM_011530775.1:c.2595G>C XP_011529077.1:p.Leu865=
XM_011530776.1:c.2595G>C XP_011529078.1:p.Leu865=
XM_011530777.1:c.2595G>C XP_011529079.1:p.Leu865=
XR_938365.1:n.2822G>C
XM_006724579.3:c.2595G>C XP_006724642.1:p.Leu865=
XM_006724580.3:c.1884G>C XP_006724643.1:p.Leu628=
XM_006724581.4:c.2595G>C XP_006724644.1:p.Leu865=
XM_006724582.4:c.2595G>C XP_006724645.1:p.Leu865=
XM_006724583.4:c.2595G>C XP_006724646.1:p.Leu865=
XM_006724584.3:c.2595G>C XP_006724647.1:p.Leu865=
XM_011530773.2:c.1788G>C XP_011529075.1:p.Leu596=
XM_011530774.3:c.2595G>C XP_011529076.1:p.Leu865=
XM_011530776.2:c.2595G>C XP_011529078.1:p.Leu865=
XM_011530777.2:c.2595G>C XP_011529079.1:p.Leu865=
XM_017029359.2:c.2469G>C XP_016884848.1:p.Leu823=
XM_017029360.1:c.2001G>C XP_016884849.1:p.Leu667=
XR_938365.2:n.2816G>C
NM_001111125.3:c.2499G>C MANE Select NP_001104595.1:p.Leu833=
NM_015075.2:c.1884G>C NP_055890.1:p.Leu628=