Canonical Allele Identifier: CA413142994

Gene: IQSEC2

Linked Data

• dbSNP Id: rs1556859368
• gnomAD v2: X-53264364-C-A
• gnomAD v4: X-53235182-C-A
• MyVariant Identifiers: chrX:g.53264364C>A (hg19) ; chrX:g.53235182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235182C>A , CM000685.2:g.53235182C>A	GRCh38
NC_000023.10:g.53264364C>A , CM000685.1:g.53264364C>A	GRCh37
NC_000023.9:g.53281089C>A	NCBI36
NG_021296.1:g.91159G>T
NG_021296.2:g.91169G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3663G>T	ENSP00000516672.1:p.Gly1221=
ENST00000638521.1:c.1453+601G>T
ENST00000638869.1:c.962+601G>T
ENST00000639796.1:c.316+1140G>T	ENSP00000492252.1:n.316+1140G>T
ENST00000640005.1:c.514+1140G>T	ENSP00000491293.1:n.514+1140G>T
ENST00000640436.1:n.484G>T
ENST00000640694.1:c.3454G>T	ENSP00000492403.1:p.Val1152Phe
ENST00000642864.1:c.3504G>T MANE Select	ENSP00000495726.1:p.Gly1168=
ENST00000674510.1:c.3504G>T	ENSP00000502054.1:p.Gly1168=
ENST00000675719.1:c.3474G>T	ENSP00000501927.1:p.Gly1158=
ENST00000375365.2:c.2839G>T	ENSP00000364514.2:p.Val947Phe
ENST00000396435.7:c.3504G>T	ENSP00000379712.3:p.Gly1168=
NM_001111125.2:c.3504G>T	NP_001104595.1:p.Gly1168=
NM_015075.1:c.2839G>T	NP_055890.1:p.Val947Phe
XM_006724579.2:c.3600G>T	XP_006724642.1:p.Gly1200=
XM_006724580.2:c.2889G>T	XP_006724643.1:p.Gly963=
XM_006724581.2:c.3597+601G>T	XP_006724644.1:n.3597+601G>T
XM_006724582.2:c.3597+601G>T	XP_006724645.1:n.3597+601G>T
XM_006724583.2:c.3547+1140G>T	XP_006724646.1:n.3547+1140G>T
XM_006724584.2:c.3550G>T	XP_006724647.1:p.Val1184Phe
XM_011530772.1:c.2826G>T	XP_011529074.1:p.Gly942=
XM_011530773.1:c.2793G>T	XP_011529075.1:p.Gly931=
XM_011530775.1:c.3547+1140G>T	XP_011529077.1:n.3547+1140G>T
XM_006724579.3:c.3600G>T	XP_006724642.1:p.Gly1200=
XM_006724580.3:c.2889G>T	XP_006724643.1:p.Gly963=
XM_006724581.4:c.3597+601G>T	XP_006724644.1:n.3597+601G>T
XM_006724582.4:c.3597+601G>T	XP_006724645.1:n.3597+601G>T
XM_006724583.4:c.3547+1140G>T	XP_006724646.1:n.3547+1140G>T
XM_006724584.3:c.3550G>T	XP_006724647.1:p.Val1184Phe
XM_011530773.2:c.2793G>T	XP_011529075.1:p.Gly931=
XM_017029359.2:c.3474G>T	XP_016884848.1:p.Gly1158=
XM_017029360.1:c.3006G>T	XP_016884849.1:p.Gly1002=
NM_001111125.3:c.3504G>T MANE Select	NP_001104595.1:p.Gly1168=
NM_015075.2:c.2839G>T	NP_055890.1:p.Val947Phe