Canonical Allele Identifier: CA1133162625

Gene: IQSEC2

Linked Data

• dbSNP Id: rs2074332200
• gnomAD v3: X-53247951-T-C
• gnomAD v4: X-53247951-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53247951T>C , CM000685.2:g.53247951T>C	GRCh38
NC_000023.10:g.53277133T>C , CM000685.1:g.53277133T>C	GRCh37
NC_000023.9:g.53293858T>C	NCBI36
NG_021296.1:g.78390A>G
NG_021296.2:g.78400A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.2741+163A>G	ENSP00000516672.1:n.2741+163A>G
ENST00000638521.1:c.534+163A>G
ENST00000638869.1:c.43+163A>G
ENST00000640694.1:c.2582+163A>G	ENSP00000492403.1:n.2582+163A>G
ENST00000642864.1:c.2582+163A>G MANE Select	ENSP00000495726.1:n.2582+163A>G
ENST00000674510.1:c.2582+163A>G	ENSP00000502054.1:n.2582+163A>G
ENST00000674761.1:n.333+163A>G
ENST00000675719.1:c.2552+163A>G	ENSP00000501927.1:n.2552+163A>G
ENST00000375365.2:c.1967+163A>G	ENSP00000364514.2:n.1967+163A>G
ENST00000396435.7:c.2582+163A>G	ENSP00000379712.3:n.2582+163A>G
NM_001111125.2:c.2582+163A>G	NP_001104595.1:n.2582+163A>G
NM_015075.1:c.1967+163A>G	NP_055890.1:n.1967+163A>G
XM_006724579.2:c.2678+163A>G	XP_006724642.1:n.2678+163A>G
XM_006724580.2:c.1967+163A>G	XP_006724643.1:n.1967+163A>G
XM_006724581.2:c.2678+163A>G	XP_006724644.1:n.2678+163A>G
XM_006724582.2:c.2678+163A>G	XP_006724645.1:n.2678+163A>G
XM_006724583.2:c.2678+163A>G	XP_006724646.1:n.2678+163A>G
XM_006724584.2:c.2678+163A>G	XP_006724647.1:n.2678+163A>G
XM_011530772.1:c.1904+163A>G	XP_011529074.1:n.1904+163A>G
XM_011530773.1:c.1871+163A>G	XP_011529075.1:n.1871+163A>G
XM_011530774.1:c.2678+163A>G	XP_011529076.1:n.2678+163A>G
XM_011530775.1:c.2678+163A>G	XP_011529077.1:n.2678+163A>G
XM_011530776.1:c.2678+163A>G	XP_011529078.1:n.2678+163A>G
XM_011530777.1:c.2678+163A>G	XP_011529079.1:n.2678+163A>G
XR_938365.1:n.2905+163A>G
XM_006724579.3:c.2678+163A>G	XP_006724642.1:n.2678+163A>G
XM_006724580.3:c.1967+163A>G	XP_006724643.1:n.1967+163A>G
XM_006724581.4:c.2678+163A>G	XP_006724644.1:n.2678+163A>G
XM_006724582.4:c.2678+163A>G	XP_006724645.1:n.2678+163A>G
XM_006724583.4:c.2678+163A>G	XP_006724646.1:n.2678+163A>G
XM_006724584.3:c.2678+163A>G	XP_006724647.1:n.2678+163A>G
XM_011530773.2:c.1871+163A>G	XP_011529075.1:n.1871+163A>G
XM_011530774.3:c.2678+163A>G	XP_011529076.1:n.2678+163A>G
XM_011530776.2:c.2678+163A>G	XP_011529078.1:n.2678+163A>G
XM_011530777.2:c.2678+163A>G	XP_011529079.1:n.2678+163A>G
XM_017029359.2:c.2552+163A>G	XP_016884848.1:n.2552+163A>G
XM_017029360.1:c.2084+163A>G	XP_016884849.1:n.2084+163A>G
XR_938365.2:n.2899+163A>G
NM_001111125.3:c.2582+163A>G MANE Select	NP_001104595.1:n.2582+163A>G
NM_015075.2:c.1967+163A>G	NP_055890.1:n.1967+163A>G