Canonical Allele Identifier: CA16621442
Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422353
ClinVar RCV Id: RCV000487277
dbSNP Id: rs1064795725

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53238140C>T , CM000685.2:g.53238140C>T GRCh38
NC_000023.10:g.53267322C>T , CM000685.1:g.53267322C>T GRCh37
NC_000023.9:g.53284047C>T NCBI36
NG_021296.1:g.88201G>A
NG_021296.2:g.88211G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.3436+5G>A ENSP00000516672.1:n.3436+5G>A
ENST00000638521.1:c.1229+5G>A
ENST00000638869.1:c.738+5G>A
ENST00000639642.1:c.567+5G>A
ENST00000639796.1:c.142+5G>A ENSP00000492252.1:n.142+5G>A
ENST00000640005.1:c.340+5G>A ENSP00000491293.1:n.340+5G>A
ENST00000640436.1:n.307+5G>A
ENST00000640442.1:n.317G>A
ENST00000640694.1:c.3277+5G>A ENSP00000492403.1:n.3277+5G>A
ENST00000642864.1:c.3277+5G>A MANE Select ENSP00000495726.1:n.3277+5G>A
ENST00000674510.1:c.3277+5G>A ENSP00000502054.1:n.3277+5G>A
ENST00000675719.1:c.3247+5G>A ENSP00000501927.1:n.3247+5G>A
ENST00000375365.2:c.2662+5G>A ENSP00000364514.2:n.2662+5G>A
ENST00000396435.7:c.3277+5G>A ENSP00000379712.3:n.3277+5G>A
NM_001111125.2:c.3277+5G>A NP_001104595.1:n.3277+5G>A
NM_015075.1:c.2662+5G>A NP_055890.1:n.2662+5G>A
XM_006724579.2:c.3373+5G>A XP_006724642.1:n.3373+5G>A
XM_006724580.2:c.2662+5G>A XP_006724643.1:n.2662+5G>A
XM_006724581.2:c.3373+5G>A XP_006724644.1:n.3373+5G>A
XM_006724582.2:c.3373+5G>A XP_006724645.1:n.3373+5G>A
XM_006724583.2:c.3373+5G>A XP_006724646.1:n.3373+5G>A
XM_006724584.2:c.3373+5G>A XP_006724647.1:n.3373+5G>A
XM_011530772.1:c.2599+5G>A XP_011529074.1:n.2599+5G>A
XM_011530773.1:c.2566+5G>A XP_011529075.1:n.2566+5G>A
XM_011530774.1:c.3373+5G>A XP_011529076.1:n.3373+5G>A
XM_011530775.1:c.3373+5G>A XP_011529077.1:n.3373+5G>A
XM_011530776.1:c.3373+5G>A XP_011529078.1:n.3373+5G>A
XM_011530777.1:c.3373+5G>A XP_011529079.1:n.3373+5G>A
XR_938365.1:n.3600+5G>A
XM_006724579.3:c.3373+5G>A XP_006724642.1:n.3373+5G>A
XM_006724580.3:c.2662+5G>A XP_006724643.1:n.2662+5G>A
XM_006724581.4:c.3373+5G>A XP_006724644.1:n.3373+5G>A
XM_006724582.4:c.3373+5G>A XP_006724645.1:n.3373+5G>A
XM_006724583.4:c.3373+5G>A XP_006724646.1:n.3373+5G>A
XM_006724584.3:c.3373+5G>A XP_006724647.1:n.3373+5G>A
XM_011530773.2:c.2566+5G>A XP_011529075.1:n.2566+5G>A
XM_011530774.3:c.3373+5G>A XP_011529076.1:n.3373+5G>A
XM_011530776.2:c.3373+5G>A XP_011529078.1:n.3373+5G>A
XM_011530777.2:c.3373+5G>A XP_011529079.1:n.3373+5G>A
XM_017029359.2:c.3247+5G>A XP_016884848.1:n.3247+5G>A
XM_017029360.1:c.2779+5G>A XP_016884849.1:n.2779+5G>A
XR_938365.2:n.3594+5G>A
NM_001111125.3:c.3277+5G>A MANE Select NP_001104595.1:n.3277+5G>A
NM_015075.2:c.2662+5G>A NP_055890.1:n.2662+5G>A