Canonical Allele Identifier: CA641903968

Gene: IQSEC2

Linked Data

• dbSNP Id: rs1556859318
• gnomAD v2: X-53264303-GC-G
• gnomAD v4: X-53235121-GC-G
• MyVariant Identifiers: chrX:g.53264304del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53235122del , CM000685.2:g.53235122del	GRCh38
NC_000023.10:g.53264304del , CM000685.1:g.53264304del	GRCh37
NC_000023.9:g.53281029del	NCBI36
NG_021296.1:g.91219del
NG_021296.2:g.91229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3723del	ENSP00000516672.1:p.Pro1242GlnfsTer?
ENST00000638521.1:c.1453+661del
ENST00000638869.1:c.962+661del
ENST00000639796.1:c.316+1200del	ENSP00000492252.1:n.316+1200del
ENST00000640005.1:c.514+1200del	ENSP00000491293.1:n.514+1200del
ENST00000640436.1:n.544del
ENST00000640694.1:c.*49del	ENSP00000492403.1:n.*49del
ENST00000642864.1:c.3564del MANE Select	ENSP00000495726.1:p.Pro1189GlnfsTer?
ENST00000674510.1:c.3564del	ENSP00000502054.1:p.Pro1189GlnfsTer?
ENST00000675719.1:c.3534del	ENSP00000501927.1:p.Pro1179GlnfsTer?
ENST00000375365.2:c.*49del	ENSP00000364514.2:n.*49del
ENST00000396435.7:c.3564del	ENSP00000379712.3:p.Pro1189GlnfsTer?
NM_001111125.2:c.3564del	NP_001104595.1:p.Pro1189GlnfsTer?
NM_015075.1:c.*49del	NP_055890.1:n.*49del
XM_006724579.2:c.3660del	XP_006724642.1:p.Pro1221GlnfsTer?
XM_006724580.2:c.2949del	XP_006724643.1:p.Pro984GlnfsTer?
XM_006724581.2:c.3597+661del	XP_006724644.1:n.3597+661del
XM_006724582.2:c.3597+661del	XP_006724645.1:n.3597+661del
XM_006724583.2:c.3547+1200del	XP_006724646.1:n.3547+1200del
XM_006724584.2:c.*49del	XP_006724647.1:n.*49del
XM_011530772.1:c.2886del	XP_011529074.1:p.Pro963GlnfsTer?
XM_011530773.1:c.2853del	XP_011529075.1:p.Pro952GlnfsTer?
XM_011530775.1:c.3547+1200del	XP_011529077.1:n.3547+1200del
XM_006724579.3:c.3660del	XP_006724642.1:p.Pro1221GlnfsTer?
XM_006724580.3:c.2949del	XP_006724643.1:p.Pro984GlnfsTer?
XM_006724581.4:c.3597+661del	XP_006724644.1:n.3597+661del
XM_006724582.4:c.3597+661del	XP_006724645.1:n.3597+661del
XM_006724583.4:c.3547+1200del	XP_006724646.1:n.3547+1200del
XM_006724584.3:c.*49del	XP_006724647.1:n.*49del
XM_011530773.2:c.2853del	XP_011529075.1:p.Pro952GlnfsTer?
XM_017029359.2:c.3534del	XP_016884848.1:p.Pro1179GlnfsTer?
XM_017029360.1:c.3066del	XP_016884849.1:p.Pro1023GlnfsTer?
NM_001111125.3:c.3564del MANE Select	NP_001104595.1:p.Pro1189GlnfsTer?
NM_015075.2:c.*49del	NP_055890.1:n.*49del