Canonical Allele Identifier: CA413171980
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53255975G>A , CM000685.2:g.53255975G>A GRCh38
NC_000023.10:g.53285157G>A , CM000685.1:g.53285157G>A GRCh37
NC_000023.9:g.53301882G>A NCBI36
NG_021296.1:g.70366C>T
NG_021296.2:g.70376C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.983C>T ENSP00000516672.1:p.Pro328Leu
ENST00000638630.1:c.113C>T ENSP00000492390.1:p.Pro38Leu
ENST00000640694.1:c.824C>T ENSP00000492403.1:p.Pro275Leu
ENST00000642864.1:c.824C>T MANE Select ENSP00000495726.1:p.Pro275Leu
ENST00000674510.1:c.824C>T ENSP00000502054.1:p.Pro275Leu
ENST00000675719.1:c.794C>T ENSP00000501927.1:p.Pro265Leu
ENST00000375365.2:c.209C>T ENSP00000364514.2:p.Pro70Leu
ENST00000396435.7:c.824C>T ENSP00000379712.3:p.Pro275Leu
NM_001111125.2:c.824C>T NP_001104595.1:p.Pro275Leu
NM_015075.1:c.209C>T NP_055890.1:p.Pro70Leu
XM_006724579.2:c.920C>T XP_006724642.1:p.Pro307Leu
XM_006724580.2:c.209C>T XP_006724643.1:p.Pro70Leu
XM_006724581.2:c.920C>T XP_006724644.1:p.Pro307Leu
XM_006724582.2:c.920C>T XP_006724645.1:p.Pro307Leu
XM_006724583.2:c.920C>T XP_006724646.1:p.Pro307Leu
XM_006724584.2:c.920C>T XP_006724647.1:p.Pro307Leu
XM_011530772.1:c.146C>T XP_011529074.1:p.Pro49Leu
XM_011530773.1:c.113C>T XP_011529075.1:p.Pro38Leu
XM_011530774.1:c.920C>T XP_011529076.1:p.Pro307Leu
XM_011530775.1:c.920C>T XP_011529077.1:p.Pro307Leu
XM_011530776.1:c.920C>T XP_011529078.1:p.Pro307Leu
XM_011530777.1:c.920C>T XP_011529079.1:p.Pro307Leu
XR_938365.1:n.1147C>T
XM_006724579.3:c.920C>T XP_006724642.1:p.Pro307Leu
XM_006724580.3:c.209C>T XP_006724643.1:p.Pro70Leu
XM_006724581.4:c.920C>T XP_006724644.1:p.Pro307Leu
XM_006724582.4:c.920C>T XP_006724645.1:p.Pro307Leu
XM_006724583.4:c.920C>T XP_006724646.1:p.Pro307Leu
XM_006724584.3:c.920C>T XP_006724647.1:p.Pro307Leu
XM_011530773.2:c.113C>T XP_011529075.1:p.Pro38Leu
XM_011530774.3:c.920C>T XP_011529076.1:p.Pro307Leu
XM_011530776.2:c.920C>T XP_011529078.1:p.Pro307Leu
XM_011530777.2:c.920C>T XP_011529079.1:p.Pro307Leu
XM_017029359.2:c.794C>T XP_016884848.1:p.Pro265Leu
XM_017029360.1:c.326C>T XP_016884849.1:p.Pro109Leu
XR_938365.2:n.1141C>T
NM_001111125.3:c.824C>T MANE Select NP_001104595.1:p.Pro275Leu
NM_015075.2:c.209C>T NP_055890.1:p.Pro70Leu