Canonical Allele Identifier: CA2693790719
Gene: IQSEC2 HGNC NCBI

Linked Data

gnomAD v4: X-53256139-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53256139C>A , CM000685.2:g.53256139C>A GRCh38
NC_000023.10:g.53285321C>A , CM000685.1:g.53285321C>A GRCh37
NC_000023.9:g.53302046C>A NCBI36
NG_021296.1:g.70202G>T
NG_021296.2:g.70212G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.897-78G>T ENSP00000516672.1:n.897-78G>T
ENST00000638630.1:c.27-78G>T ENSP00000492390.1:n.27-78G>T
ENST00000640694.1:c.738-78G>T ENSP00000492403.1:n.738-78G>T
ENST00000642864.1:c.738-78G>T MANE Select ENSP00000495726.1:n.738-78G>T
ENST00000674510.1:c.738-78G>T ENSP00000502054.1:n.738-78G>T
ENST00000675719.1:c.708-78G>T ENSP00000501927.1:n.708-78G>T
ENST00000375365.2:c.123-78G>T ENSP00000364514.2:n.123-78G>T
ENST00000396435.7:c.738-78G>T ENSP00000379712.3:n.738-78G>T
NM_001111125.2:c.738-78G>T NP_001104595.1:n.738-78G>T
NM_015075.1:c.123-78G>T NP_055890.1:n.123-78G>T
XM_006724579.2:c.834-78G>T XP_006724642.1:n.834-78G>T
XM_006724580.2:c.123-78G>T XP_006724643.1:n.123-78G>T
XM_006724581.2:c.834-78G>T XP_006724644.1:n.834-78G>T
XM_006724582.2:c.834-78G>T XP_006724645.1:n.834-78G>T
XM_006724583.2:c.834-78G>T XP_006724646.1:n.834-78G>T
XM_006724584.2:c.834-78G>T XP_006724647.1:n.834-78G>T
XM_011530772.1:c.60-78G>T XP_011529074.1:n.60-78G>T
XM_011530773.1:c.27-78G>T XP_011529075.1:n.27-78G>T
XM_011530774.1:c.834-78G>T XP_011529076.1:n.834-78G>T
XM_011530775.1:c.834-78G>T XP_011529077.1:n.834-78G>T
XM_011530776.1:c.834-78G>T XP_011529078.1:n.834-78G>T
XM_011530777.1:c.834-78G>T XP_011529079.1:n.834-78G>T
XR_938365.1:n.1061-78G>T
XM_006724579.3:c.834-78G>T XP_006724642.1:n.834-78G>T
XM_006724580.3:c.123-78G>T XP_006724643.1:n.123-78G>T
XM_006724581.4:c.834-78G>T XP_006724644.1:n.834-78G>T
XM_006724582.4:c.834-78G>T XP_006724645.1:n.834-78G>T
XM_006724583.4:c.834-78G>T XP_006724646.1:n.834-78G>T
XM_006724584.3:c.834-78G>T XP_006724647.1:n.834-78G>T
XM_011530773.2:c.27-78G>T XP_011529075.1:n.27-78G>T
XM_011530774.3:c.834-78G>T XP_011529076.1:n.834-78G>T
XM_011530776.2:c.834-78G>T XP_011529078.1:n.834-78G>T
XM_011530777.2:c.834-78G>T XP_011529079.1:n.834-78G>T
XM_017029359.2:c.708-78G>T XP_016884848.1:n.708-78G>T
XM_017029360.1:c.240-78G>T XP_016884849.1:n.240-78G>T
XR_938365.2:n.1055-78G>T
NM_001111125.3:c.738-78G>T MANE Select NP_001104595.1:n.738-78G>T
NM_015075.2:c.123-78G>T NP_055890.1:n.123-78G>T