Canonical Allele Identifier: CA16621443
Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423760
ClinVar RCV Id: RCV000484641
dbSNP Id: rs1064796614

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53238172G>A , CM000685.2:g.53238172G>A GRCh38
NC_000023.10:g.53267354G>A , CM000685.1:g.53267354G>A GRCh37
NC_000023.9:g.53284079G>A NCBI36
NG_021296.1:g.88169C>T
NG_021296.2:g.88179C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.3409C>T ENSP00000516672.1:p.Gln1137Ter
ENST00000638521.1:c.1202C>T
ENST00000638869.1:c.711C>T
ENST00000639642.1:c.540C>T
ENST00000639796.1:c.115C>T ENSP00000492252.1:p.Gln39Ter
ENST00000640005.1:c.313C>T ENSP00000491293.1:p.Gln105Ter
ENST00000640436.1:n.280C>T
ENST00000640442.1:n.285C>T
ENST00000640694.1:c.3250C>T ENSP00000492403.1:p.Gln1084Ter
ENST00000642864.1:c.3250C>T MANE Select ENSP00000495726.1:p.Gln1084Ter
ENST00000674510.1:c.3250C>T ENSP00000502054.1:p.Gln1084Ter
ENST00000675719.1:c.3220C>T ENSP00000501927.1:p.Gln1074Ter
ENST00000375365.2:c.2635C>T ENSP00000364514.2:p.Gln879Ter
ENST00000396435.7:c.3250C>T ENSP00000379712.3:p.Gln1084Ter
NM_001111125.2:c.3250C>T NP_001104595.1:p.Gln1084Ter
NM_015075.1:c.2635C>T NP_055890.1:p.Gln879Ter
XM_006724579.2:c.3346C>T XP_006724642.1:p.Gln1116Ter
XM_006724580.2:c.2635C>T XP_006724643.1:p.Gln879Ter
XM_006724581.2:c.3346C>T XP_006724644.1:p.Gln1116Ter
XM_006724582.2:c.3346C>T XP_006724645.1:p.Gln1116Ter
XM_006724583.2:c.3346C>T XP_006724646.1:p.Gln1116Ter
XM_006724584.2:c.3346C>T XP_006724647.1:p.Gln1116Ter
XM_011530772.1:c.2572C>T XP_011529074.1:p.Gln858Ter
XM_011530773.1:c.2539C>T XP_011529075.1:p.Gln847Ter
XM_011530774.1:c.3346C>T XP_011529076.1:p.Gln1116Ter
XM_011530775.1:c.3346C>T XP_011529077.1:p.Gln1116Ter
XM_011530776.1:c.3346C>T XP_011529078.1:p.Gln1116Ter
XM_011530777.1:c.3346C>T XP_011529079.1:p.Gln1116Ter
XR_938365.1:n.3573C>T
XM_006724579.3:c.3346C>T XP_006724642.1:p.Gln1116Ter
XM_006724580.3:c.2635C>T XP_006724643.1:p.Gln879Ter
XM_006724581.4:c.3346C>T XP_006724644.1:p.Gln1116Ter
XM_006724582.4:c.3346C>T XP_006724645.1:p.Gln1116Ter
XM_006724583.4:c.3346C>T XP_006724646.1:p.Gln1116Ter
XM_006724584.3:c.3346C>T XP_006724647.1:p.Gln1116Ter
XM_011530773.2:c.2539C>T XP_011529075.1:p.Gln847Ter
XM_011530774.3:c.3346C>T XP_011529076.1:p.Gln1116Ter
XM_011530776.2:c.3346C>T XP_011529078.1:p.Gln1116Ter
XM_011530777.2:c.3346C>T XP_011529079.1:p.Gln1116Ter
XM_017029359.2:c.3220C>T XP_016884848.1:p.Gln1074Ter
XM_017029360.1:c.2752C>T XP_016884849.1:p.Gln918Ter
XR_938365.2:n.3567C>T
NM_001111125.3:c.3250C>T MANE Select NP_001104595.1:p.Gln1084Ter
NM_015075.2:c.2635C>T NP_055890.1:p.Gln879Ter