Canonical Allele Identifier: CA2693789658

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53248314-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53248314G>A , CM000685.2:g.53248314G>A	GRCh38
NC_000023.10:g.53277496G>A , CM000685.1:g.53277496G>A	GRCh37
NC_000023.9:g.53294221G>A	NCBI36
NG_021296.1:g.78027C>T
NG_021296.2:g.78037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.2619-78C>T	ENSP00000516672.1:n.2619-78C>T
ENST00000638521.1:c.412-78C>T
ENST00000640694.1:c.2460-78C>T	ENSP00000492403.1:n.2460-78C>T
ENST00000642864.1:c.2460-78C>T MANE Select	ENSP00000495726.1:n.2460-78C>T
ENST00000674510.1:c.2460-78C>T	ENSP00000502054.1:n.2460-78C>T
ENST00000674761.1:n.133C>T
ENST00000675719.1:c.2430-78C>T	ENSP00000501927.1:n.2430-78C>T
ENST00000375365.2:c.1845-78C>T	ENSP00000364514.2:n.1845-78C>T
ENST00000396435.7:c.2460-78C>T	ENSP00000379712.3:n.2460-78C>T
NM_001111125.2:c.2460-78C>T	NP_001104595.1:n.2460-78C>T
NM_015075.1:c.1845-78C>T	NP_055890.1:n.1845-78C>T
XM_006724579.2:c.2556-78C>T	XP_006724642.1:n.2556-78C>T
XM_006724580.2:c.1845-78C>T	XP_006724643.1:n.1845-78C>T
XM_006724581.2:c.2556-78C>T	XP_006724644.1:n.2556-78C>T
XM_006724582.2:c.2556-78C>T	XP_006724645.1:n.2556-78C>T
XM_006724583.2:c.2556-78C>T	XP_006724646.1:n.2556-78C>T
XM_006724584.2:c.2556-78C>T	XP_006724647.1:n.2556-78C>T
XM_011530772.1:c.1782-78C>T	XP_011529074.1:n.1782-78C>T
XM_011530773.1:c.1749-78C>T	XP_011529075.1:n.1749-78C>T
XM_011530774.1:c.2556-78C>T	XP_011529076.1:n.2556-78C>T
XM_011530775.1:c.2556-78C>T	XP_011529077.1:n.2556-78C>T
XM_011530776.1:c.2556-78C>T	XP_011529078.1:n.2556-78C>T
XM_011530777.1:c.2556-78C>T	XP_011529079.1:n.2556-78C>T
XR_938365.1:n.2783-78C>T
XM_006724579.3:c.2556-78C>T	XP_006724642.1:n.2556-78C>T
XM_006724580.3:c.1845-78C>T	XP_006724643.1:n.1845-78C>T
XM_006724581.4:c.2556-78C>T	XP_006724644.1:n.2556-78C>T
XM_006724582.4:c.2556-78C>T	XP_006724645.1:n.2556-78C>T
XM_006724583.4:c.2556-78C>T	XP_006724646.1:n.2556-78C>T
XM_006724584.3:c.2556-78C>T	XP_006724647.1:n.2556-78C>T
XM_011530773.2:c.1749-78C>T	XP_011529075.1:n.1749-78C>T
XM_011530774.3:c.2556-78C>T	XP_011529076.1:n.2556-78C>T
XM_011530776.2:c.2556-78C>T	XP_011529078.1:n.2556-78C>T
XM_011530777.2:c.2556-78C>T	XP_011529079.1:n.2556-78C>T
XM_017029359.2:c.2430-78C>T	XP_016884848.1:n.2430-78C>T
XM_017029360.1:c.1962-78C>T	XP_016884849.1:n.1962-78C>T
XR_938365.2:n.2777-78C>T
NM_001111125.3:c.2460-78C>T MANE Select	NP_001104595.1:n.2460-78C>T
NM_015075.2:c.1845-78C>T	NP_055890.1:n.1845-78C>T