Canonical Allele Identifier: CA516674537

Gene: IQSEC2

Linked Data

• gnomAD v4: X-53255938-T-G
• MyVariant Identifiers: chrX:g.53285120T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53255938T>G , CM000685.2:g.53255938T>G	GRCh38
NC_000023.10:g.53285120T>G , CM000685.1:g.53285120T>G	GRCh37
NC_000023.9:g.53301845T>G	NCBI36
NG_021296.1:g.70403A>C
NG_021296.2:g.70413A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.1020A>C	ENSP00000516672.1:p.Gly340=
ENST00000638630.1:c.150A>C	ENSP00000492390.1:p.Gly50=
ENST00000640694.1:c.861A>C	ENSP00000492403.1:p.Gly287=
ENST00000642864.1:c.861A>C MANE Select	ENSP00000495726.1:p.Gly287=
ENST00000674510.1:c.861A>C	ENSP00000502054.1:p.Gly287=
ENST00000675719.1:c.831A>C	ENSP00000501927.1:p.Gly277=
ENST00000375365.2:c.246A>C	ENSP00000364514.2:p.Gly82=
ENST00000396435.7:c.861A>C	ENSP00000379712.3:p.Gly287=
NM_001111125.2:c.861A>C	NP_001104595.1:p.Gly287=
NM_015075.1:c.246A>C	NP_055890.1:p.Gly82=
XM_006724579.2:c.957A>C	XP_006724642.1:p.Gly319=
XM_006724580.2:c.246A>C	XP_006724643.1:p.Gly82=
XM_006724581.2:c.957A>C	XP_006724644.1:p.Gly319=
XM_006724582.2:c.957A>C	XP_006724645.1:p.Gly319=
XM_006724583.2:c.957A>C	XP_006724646.1:p.Gly319=
XM_006724584.2:c.957A>C	XP_006724647.1:p.Gly319=
XM_011530772.1:c.183A>C	XP_011529074.1:p.Gly61=
XM_011530773.1:c.150A>C	XP_011529075.1:p.Gly50=
XM_011530774.1:c.957A>C	XP_011529076.1:p.Gly319=
XM_011530775.1:c.957A>C	XP_011529077.1:p.Gly319=
XM_011530776.1:c.957A>C	XP_011529078.1:p.Gly319=
XM_011530777.1:c.957A>C	XP_011529079.1:p.Gly319=
XR_938365.1:n.1184A>C
XM_006724579.3:c.957A>C	XP_006724642.1:p.Gly319=
XM_006724580.3:c.246A>C	XP_006724643.1:p.Gly82=
XM_006724581.4:c.957A>C	XP_006724644.1:p.Gly319=
XM_006724582.4:c.957A>C	XP_006724645.1:p.Gly319=
XM_006724583.4:c.957A>C	XP_006724646.1:p.Gly319=
XM_006724584.3:c.957A>C	XP_006724647.1:p.Gly319=
XM_011530773.2:c.150A>C	XP_011529075.1:p.Gly50=
XM_011530774.3:c.957A>C	XP_011529076.1:p.Gly319=
XM_011530776.2:c.957A>C	XP_011529078.1:p.Gly319=
XM_011530777.2:c.957A>C	XP_011529079.1:p.Gly319=
XM_017029359.2:c.831A>C	XP_016884848.1:p.Gly277=
XM_017029360.1:c.363A>C	XP_016884849.1:p.Gly121=
XR_938365.2:n.1178A>C
NM_001111125.3:c.861A>C MANE Select	NP_001104595.1:p.Gly287=
NM_015075.2:c.246A>C	NP_055890.1:p.Gly82=