Canonical Allele Identifier: CA413142522

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53235139-G-C
• MyVariant Identifiers: chrX:g.53264321G>C (hg19) ; chrX:g.53235139G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235139G>C , CM000685.2:g.53235139G>C	GRCh38
NC_000023.10:g.53264321G>C , CM000685.1:g.53264321G>C	GRCh37
NC_000023.9:g.53281046G>C	NCBI36
NG_021296.1:g.91202C>G
NG_021296.2:g.91212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3706C>G	ENSP00000516672.1:p.Pro1236Ala
ENST00000638521.1:c.1453+644C>G
ENST00000638869.1:c.962+644C>G
ENST00000639796.1:c.316+1183C>G	ENSP00000492252.1:n.316+1183C>G
ENST00000640005.1:c.514+1183C>G	ENSP00000491293.1:n.514+1183C>G
ENST00000640436.1:n.527C>G
ENST00000640694.1:c.*32C>G	ENSP00000492403.1:n.*32C>G
ENST00000642864.1:c.3547C>G MANE Select	ENSP00000495726.1:p.Pro1183Ala
ENST00000674510.1:c.3547C>G	ENSP00000502054.1:p.Pro1183Ala
ENST00000675719.1:c.3517C>G	ENSP00000501927.1:p.Pro1173Ala
ENST00000375365.2:c.*32C>G	ENSP00000364514.2:n.*32C>G
ENST00000396435.7:c.3547C>G	ENSP00000379712.3:p.Pro1183Ala
NM_001111125.2:c.3547C>G	NP_001104595.1:p.Pro1183Ala
NM_015075.1:c.*32C>G	NP_055890.1:n.*32C>G
XM_006724579.2:c.3643C>G	XP_006724642.1:p.Pro1215Ala
XM_006724580.2:c.2932C>G	XP_006724643.1:p.Pro978Ala
XM_006724581.2:c.3597+644C>G	XP_006724644.1:n.3597+644C>G
XM_006724582.2:c.3597+644C>G	XP_006724645.1:n.3597+644C>G
XM_006724583.2:c.3547+1183C>G	XP_006724646.1:n.3547+1183C>G
XM_006724584.2:c.*32C>G	XP_006724647.1:n.*32C>G
XM_011530772.1:c.2869C>G	XP_011529074.1:p.Pro957Ala
XM_011530773.1:c.2836C>G	XP_011529075.1:p.Pro946Ala
XM_011530775.1:c.3547+1183C>G	XP_011529077.1:n.3547+1183C>G
XM_006724579.3:c.3643C>G	XP_006724642.1:p.Pro1215Ala
XM_006724580.3:c.2932C>G	XP_006724643.1:p.Pro978Ala
XM_006724581.4:c.3597+644C>G	XP_006724644.1:n.3597+644C>G
XM_006724582.4:c.3597+644C>G	XP_006724645.1:n.3597+644C>G
XM_006724583.4:c.3547+1183C>G	XP_006724646.1:n.3547+1183C>G
XM_006724584.3:c.*32C>G	XP_006724647.1:n.*32C>G
XM_011530773.2:c.2836C>G	XP_011529075.1:p.Pro946Ala
XM_017029359.2:c.3517C>G	XP_016884848.1:p.Pro1173Ala
XM_017029360.1:c.3049C>G	XP_016884849.1:p.Pro1017Ala
NM_001111125.3:c.3547C>G MANE Select	NP_001104595.1:p.Pro1183Ala
NM_015075.2:c.*32C>G	NP_055890.1:n.*32C>G