Canonical Allele Identifier: CA516674597

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 1117601
• ClinVar RCV Id: RCV001446389
• dbSNP Id: rs2074461496
• gnomAD v3: X-53255998-G-C
• gnomAD v4: X-53255998-G-C
• MyVariant Identifiers: chrX:g.53285180G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53255998G>C , CM000685.2:g.53255998G>C	GRCh38
NC_000023.10:g.53285180G>C , CM000685.1:g.53285180G>C	GRCh37
NC_000023.9:g.53301905G>C	NCBI36
NG_021296.1:g.70343C>G
NG_021296.2:g.70353C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.960C>G	ENSP00000516672.1:p.Pro320=
ENST00000638630.1:c.90C>G	ENSP00000492390.1:p.Pro30=
ENST00000640694.1:c.801C>G	ENSP00000492403.1:p.Pro267=
ENST00000642864.1:c.801C>G MANE Select	ENSP00000495726.1:p.Pro267=
ENST00000674510.1:c.801C>G	ENSP00000502054.1:p.Pro267=
ENST00000675719.1:c.771C>G	ENSP00000501927.1:p.Pro257=
ENST00000375365.2:c.186C>G	ENSP00000364514.2:p.Pro62=
ENST00000396435.7:c.801C>G	ENSP00000379712.3:p.Pro267=
NM_001111125.2:c.801C>G	NP_001104595.1:p.Pro267=
NM_015075.1:c.186C>G	NP_055890.1:p.Pro62=
XM_006724579.2:c.897C>G	XP_006724642.1:p.Pro299=
XM_006724580.2:c.186C>G	XP_006724643.1:p.Pro62=
XM_006724581.2:c.897C>G	XP_006724644.1:p.Pro299=
XM_006724582.2:c.897C>G	XP_006724645.1:p.Pro299=
XM_006724583.2:c.897C>G	XP_006724646.1:p.Pro299=
XM_006724584.2:c.897C>G	XP_006724647.1:p.Pro299=
XM_011530772.1:c.123C>G	XP_011529074.1:p.Pro41=
XM_011530773.1:c.90C>G	XP_011529075.1:p.Pro30=
XM_011530774.1:c.897C>G	XP_011529076.1:p.Pro299=
XM_011530775.1:c.897C>G	XP_011529077.1:p.Pro299=
XM_011530776.1:c.897C>G	XP_011529078.1:p.Pro299=
XM_011530777.1:c.897C>G	XP_011529079.1:p.Pro299=
XR_938365.1:n.1124C>G
XM_006724579.3:c.897C>G	XP_006724642.1:p.Pro299=
XM_006724580.3:c.186C>G	XP_006724643.1:p.Pro62=
XM_006724581.4:c.897C>G	XP_006724644.1:p.Pro299=
XM_006724582.4:c.897C>G	XP_006724645.1:p.Pro299=
XM_006724583.4:c.897C>G	XP_006724646.1:p.Pro299=
XM_006724584.3:c.897C>G	XP_006724647.1:p.Pro299=
XM_011530773.2:c.90C>G	XP_011529075.1:p.Pro30=
XM_011530774.3:c.897C>G	XP_011529076.1:p.Pro299=
XM_011530776.2:c.897C>G	XP_011529078.1:p.Pro299=
XM_011530777.2:c.897C>G	XP_011529079.1:p.Pro299=
XM_017029359.2:c.771C>G	XP_016884848.1:p.Pro257=
XM_017029360.1:c.303C>G	XP_016884849.1:p.Pro101=
XR_938365.2:n.1118C>G
NM_001111125.3:c.801C>G MANE Select	NP_001104595.1:p.Pro267=
NM_015075.2:c.186C>G	NP_055890.1:p.Pro62=