Canonical Allele Identifier: CA2693796546

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53241727-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53241727G>T , CM000685.2:g.53241727G>T	GRCh38
NC_000023.10:g.53270909G>T , CM000685.1:g.53270909G>T	GRCh37
NC_000023.9:g.53287634G>T	NCBI36
NG_021296.1:g.84614C>A
NG_021296.2:g.84624C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706952.1:c.3174+57C>A	ENSP00000516672.1:n.3174+57C>A
ENST00000638521.1:c.967+57C>A
ENST00000638869.1:c.476+57C>A
ENST00000639642.1:c.305+57C>A
ENST00000640005.1:c.78+57C>A	ENSP00000491293.1:n.78+57C>A
ENST00000640694.1:c.3015+57C>A	ENSP00000492403.1:n.3015+57C>A
ENST00000642864.1:c.3015+57C>A MANE Select	ENSP00000495726.1:n.3015+57C>A
ENST00000674510.1:c.3015+57C>A	ENSP00000502054.1:n.3015+57C>A
ENST00000674761.1:n.1379C>A
ENST00000675719.1:c.2985+57C>A	ENSP00000501927.1:n.2985+57C>A
ENST00000375365.2:c.2400+57C>A	ENSP00000364514.2:n.2400+57C>A
ENST00000396435.7:c.3015+57C>A	ENSP00000379712.3:n.3015+57C>A
NM_001111125.2:c.3015+57C>A	NP_001104595.1:n.3015+57C>A
NM_015075.1:c.2400+57C>A	NP_055890.1:n.2400+57C>A
XM_006724579.2:c.3111+57C>A	XP_006724642.1:n.3111+57C>A
XM_006724580.2:c.2400+57C>A	XP_006724643.1:n.2400+57C>A
XM_006724581.2:c.3111+57C>A	XP_006724644.1:n.3111+57C>A
XM_006724582.2:c.3111+57C>A	XP_006724645.1:n.3111+57C>A
XM_006724583.2:c.3111+57C>A	XP_006724646.1:n.3111+57C>A
XM_006724584.2:c.3111+57C>A	XP_006724647.1:n.3111+57C>A
XM_011530772.1:c.2337+57C>A	XP_011529074.1:n.2337+57C>A
XM_011530773.1:c.2304+57C>A	XP_011529075.1:n.2304+57C>A
XM_011530774.1:c.3111+57C>A	XP_011529076.1:n.3111+57C>A
XM_011530775.1:c.3111+57C>A	XP_011529077.1:n.3111+57C>A
XM_011530776.1:c.3111+57C>A	XP_011529078.1:n.3111+57C>A
XM_011530777.1:c.3111+57C>A	XP_011529079.1:n.3111+57C>A
XR_938365.1:n.3338+57C>A
XM_006724579.3:c.3111+57C>A	XP_006724642.1:n.3111+57C>A
XM_006724580.3:c.2400+57C>A	XP_006724643.1:n.2400+57C>A
XM_006724581.4:c.3111+57C>A	XP_006724644.1:n.3111+57C>A
XM_006724582.4:c.3111+57C>A	XP_006724645.1:n.3111+57C>A
XM_006724583.4:c.3111+57C>A	XP_006724646.1:n.3111+57C>A
XM_006724584.3:c.3111+57C>A	XP_006724647.1:n.3111+57C>A
XM_011530773.2:c.2304+57C>A	XP_011529075.1:n.2304+57C>A
XM_011530774.3:c.3111+57C>A	XP_011529076.1:n.3111+57C>A
XM_011530776.2:c.3111+57C>A	XP_011529078.1:n.3111+57C>A
XM_011530777.2:c.3111+57C>A	XP_011529079.1:n.3111+57C>A
XM_017029359.2:c.2985+57C>A	XP_016884848.1:n.2985+57C>A
XM_017029360.1:c.2517+57C>A	XP_016884849.1:n.2517+57C>A
XR_938365.2:n.3332+57C>A
NM_001111125.3:c.3015+57C>A MANE Select	NP_001104595.1:n.3015+57C>A
NM_015075.2:c.2400+57C>A	NP_055890.1:n.2400+57C>A