Canonical Allele Identifier: CA2429772834

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 2049728
• ClinVar RCV Id: RCV002914161
• dbSNP Id: rs2074227542

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53241918G>A , CM000685.2:g.53241918G>A	GRCh38
NC_000023.10:g.53271100G>A , CM000685.1:g.53271100G>A	GRCh37
NC_000023.9:g.53287825G>A	NCBI36
NG_021296.1:g.84423C>T
NG_021296.2:g.84433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3049-9C>T	ENSP00000516672.1:n.3049-9C>T
ENST00000638521.1:c.842-9C>T
ENST00000638869.1:c.351-9C>T
ENST00000639642.1:c.180-9C>T
ENST00000640694.1:c.2890-9C>T	ENSP00000492403.1:n.2890-9C>T
ENST00000642864.1:c.2890-9C>T MANE Select	ENSP00000495726.1:n.2890-9C>T
ENST00000674510.1:c.2890-9C>T	ENSP00000502054.1:n.2890-9C>T
ENST00000674761.1:n.1188C>T
ENST00000675719.1:c.2860-9C>T	ENSP00000501927.1:n.2860-9C>T
ENST00000375365.2:c.2275-9C>T	ENSP00000364514.2:n.2275-9C>T
ENST00000396435.7:c.2890-9C>T	ENSP00000379712.3:n.2890-9C>T
NM_001111125.2:c.2890-9C>T	NP_001104595.1:n.2890-9C>T
NM_015075.1:c.2275-9C>T	NP_055890.1:n.2275-9C>T
XM_006724579.2:c.2986-9C>T	XP_006724642.1:n.2986-9C>T
XM_006724580.2:c.2275-9C>T	XP_006724643.1:n.2275-9C>T
XM_006724581.2:c.2986-9C>T	XP_006724644.1:n.2986-9C>T
XM_006724582.2:c.2986-9C>T	XP_006724645.1:n.2986-9C>T
XM_006724583.2:c.2986-9C>T	XP_006724646.1:n.2986-9C>T
XM_006724584.2:c.2986-9C>T	XP_006724647.1:n.2986-9C>T
XM_011530772.1:c.2212-9C>T	XP_011529074.1:n.2212-9C>T
XM_011530773.1:c.2179-9C>T	XP_011529075.1:n.2179-9C>T
XM_011530774.1:c.2986-9C>T	XP_011529076.1:n.2986-9C>T
XM_011530775.1:c.2986-9C>T	XP_011529077.1:n.2986-9C>T
XM_011530776.1:c.2986-9C>T	XP_011529078.1:n.2986-9C>T
XM_011530777.1:c.2986-9C>T	XP_011529079.1:n.2986-9C>T
XR_938365.1:n.3213-9C>T
XM_006724579.3:c.2986-9C>T	XP_006724642.1:n.2986-9C>T
XM_006724580.3:c.2275-9C>T	XP_006724643.1:n.2275-9C>T
XM_006724581.4:c.2986-9C>T	XP_006724644.1:n.2986-9C>T
XM_006724582.4:c.2986-9C>T	XP_006724645.1:n.2986-9C>T
XM_006724583.4:c.2986-9C>T	XP_006724646.1:n.2986-9C>T
XM_006724584.3:c.2986-9C>T	XP_006724647.1:n.2986-9C>T
XM_011530773.2:c.2179-9C>T	XP_011529075.1:n.2179-9C>T
XM_011530774.3:c.2986-9C>T	XP_011529076.1:n.2986-9C>T
XM_011530776.2:c.2986-9C>T	XP_011529078.1:n.2986-9C>T
XM_011530777.2:c.2986-9C>T	XP_011529079.1:n.2986-9C>T
XM_017029359.2:c.2860-9C>T	XP_016884848.1:n.2860-9C>T
XM_017029360.1:c.2392-9C>T	XP_016884849.1:n.2392-9C>T
XR_938365.2:n.3207-9C>T
NM_001111125.3:c.2890-9C>T MANE Select	NP_001104595.1:n.2890-9C>T
NM_015075.2:c.2275-9C>T	NP_055890.1:n.2275-9C>T