Canonical Allele Identifier: CA10419871

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 509522
• ClinVar RCV Id: RCV001718887 ; RCV001517073
• dbSNP Id: rs782760727
• ExAC: X:53271029 T / G
• gnomAD v2: X-53271029-T-G
• gnomAD v3: X-53241847-T-G
• gnomAD v4: X-53241847-T-G
• MyVariant Identifiers: chrX:g.53271029T>G (hg19) ; chrX:g.53241847T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53241847T>G , CM000685.2:g.53241847T>G	GRCh38
NC_000023.10:g.53271029T>G , CM000685.1:g.53271029T>G	GRCh37
NC_000023.9:g.53287754T>G	NCBI36
NG_021296.1:g.84494A>C
NG_021296.2:g.84504A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.3111A>C	ENSP00000516672.1:p.Pro1037=
ENST00000638521.1:c.904A>C
ENST00000638869.1:c.413A>C
ENST00000639642.1:c.242A>C
ENST00000640005.1:c.15A>C	ENSP00000491293.1:p.Pro5=
ENST00000640694.1:c.2952A>C	ENSP00000492403.1:p.Pro984=
ENST00000642864.1:c.2952A>C MANE Select	ENSP00000495726.1:p.Pro984=
ENST00000674510.1:c.2952A>C	ENSP00000502054.1:p.Pro984=
ENST00000674761.1:n.1259A>C
ENST00000675719.1:c.2922A>C	ENSP00000501927.1:p.Pro974=
ENST00000375365.2:c.2337A>C	ENSP00000364514.2:p.Pro779=
ENST00000396435.7:c.2952A>C	ENSP00000379712.3:p.Pro984=
NM_001111125.2:c.2952A>C	NP_001104595.1:p.Pro984=
NM_015075.1:c.2337A>C	NP_055890.1:p.Pro779=
XM_006724579.2:c.3048A>C	XP_006724642.1:p.Pro1016=
XM_006724580.2:c.2337A>C	XP_006724643.1:p.Pro779=
XM_006724581.2:c.3048A>C	XP_006724644.1:p.Pro1016=
XM_006724582.2:c.3048A>C	XP_006724645.1:p.Pro1016=
XM_006724583.2:c.3048A>C	XP_006724646.1:p.Pro1016=
XM_006724584.2:c.3048A>C	XP_006724647.1:p.Pro1016=
XM_011530772.1:c.2274A>C	XP_011529074.1:p.Pro758=
XM_011530773.1:c.2241A>C	XP_011529075.1:p.Pro747=
XM_011530774.1:c.3048A>C	XP_011529076.1:p.Pro1016=
XM_011530775.1:c.3048A>C	XP_011529077.1:p.Pro1016=
XM_011530776.1:c.3048A>C	XP_011529078.1:p.Pro1016=
XM_011530777.1:c.3048A>C	XP_011529079.1:p.Pro1016=
XR_938365.1:n.3275A>C
XM_006724579.3:c.3048A>C	XP_006724642.1:p.Pro1016=
XM_006724580.3:c.2337A>C	XP_006724643.1:p.Pro779=
XM_006724581.4:c.3048A>C	XP_006724644.1:p.Pro1016=
XM_006724582.4:c.3048A>C	XP_006724645.1:p.Pro1016=
XM_006724583.4:c.3048A>C	XP_006724646.1:p.Pro1016=
XM_006724584.3:c.3048A>C	XP_006724647.1:p.Pro1016=
XM_011530773.2:c.2241A>C	XP_011529075.1:p.Pro747=
XM_011530774.3:c.3048A>C	XP_011529076.1:p.Pro1016=
XM_011530776.2:c.3048A>C	XP_011529078.1:p.Pro1016=
XM_011530777.2:c.3048A>C	XP_011529079.1:p.Pro1016=
XM_017029359.2:c.2922A>C	XP_016884848.1:p.Pro974=
XM_017029360.1:c.2454A>C	XP_016884849.1:p.Pro818=
XR_938365.2:n.3269A>C
NM_001111125.3:c.2952A>C MANE Select	NP_001104595.1:p.Pro984=
NM_015075.2:c.2337A>C	NP_055890.1:p.Pro779=