Canonical Allele Identifier: CA413157494
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53248232C>G , CM000685.2:g.53248232C>G GRCh38
NC_000023.10:g.53277414C>G , CM000685.1:g.53277414C>G GRCh37
NC_000023.9:g.53294139C>G NCBI36
NG_021296.1:g.78109G>C
NG_021296.2:g.78119G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.2623G>C ENSP00000516672.1:p.Val875Leu
ENST00000638521.1:c.416G>C
ENST00000640694.1:c.2464G>C ENSP00000492403.1:p.Val822Leu
ENST00000642864.1:c.2464G>C MANE Select ENSP00000495726.1:p.Val822Leu
ENST00000674510.1:c.2464G>C ENSP00000502054.1:p.Val822Leu
ENST00000674761.1:n.215G>C
ENST00000675719.1:c.2434G>C ENSP00000501927.1:p.Val812Leu
ENST00000375365.2:c.1849G>C ENSP00000364514.2:p.Val617Leu
ENST00000396435.7:c.2464G>C ENSP00000379712.3:p.Val822Leu
NM_001111125.2:c.2464G>C NP_001104595.1:p.Val822Leu
NM_015075.1:c.1849G>C NP_055890.1:p.Val617Leu
XM_006724579.2:c.2560G>C XP_006724642.1:p.Val854Leu
XM_006724580.2:c.1849G>C XP_006724643.1:p.Val617Leu
XM_006724581.2:c.2560G>C XP_006724644.1:p.Val854Leu
XM_006724582.2:c.2560G>C XP_006724645.1:p.Val854Leu
XM_006724583.2:c.2560G>C XP_006724646.1:p.Val854Leu
XM_006724584.2:c.2560G>C XP_006724647.1:p.Val854Leu
XM_011530772.1:c.1786G>C XP_011529074.1:p.Val596Leu
XM_011530773.1:c.1753G>C XP_011529075.1:p.Val585Leu
XM_011530774.1:c.2560G>C XP_011529076.1:p.Val854Leu
XM_011530775.1:c.2560G>C XP_011529077.1:p.Val854Leu
XM_011530776.1:c.2560G>C XP_011529078.1:p.Val854Leu
XM_011530777.1:c.2560G>C XP_011529079.1:p.Val854Leu
XR_938365.1:n.2787G>C
XM_006724579.3:c.2560G>C XP_006724642.1:p.Val854Leu
XM_006724580.3:c.1849G>C XP_006724643.1:p.Val617Leu
XM_006724581.4:c.2560G>C XP_006724644.1:p.Val854Leu
XM_006724582.4:c.2560G>C XP_006724645.1:p.Val854Leu
XM_006724583.4:c.2560G>C XP_006724646.1:p.Val854Leu
XM_006724584.3:c.2560G>C XP_006724647.1:p.Val854Leu
XM_011530773.2:c.1753G>C XP_011529075.1:p.Val585Leu
XM_011530774.3:c.2560G>C XP_011529076.1:p.Val854Leu
XM_011530776.2:c.2560G>C XP_011529078.1:p.Val854Leu
XM_011530777.2:c.2560G>C XP_011529079.1:p.Val854Leu
XM_017029359.2:c.2434G>C XP_016884848.1:p.Val812Leu
XM_017029360.1:c.1966G>C XP_016884849.1:p.Val656Leu
XR_938365.2:n.2781G>C
NM_001111125.3:c.2464G>C MANE Select NP_001104595.1:p.Val822Leu
NM_015075.2:c.1849G>C NP_055890.1:p.Val617Leu