Canonical Allele Identifier: CA16609408
Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 397526
ClinVar RCV Id: RCV000449548
dbSNP Id: rs1060499660

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53248219A>G , CM000685.2:g.53248219A>G GRCh38
NC_000023.10:g.53277401A>G , CM000685.1:g.53277401A>G GRCh37
NC_000023.9:g.53294126A>G NCBI36
NG_021296.1:g.78122T>C
NG_021296.2:g.78132T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.2636T>C ENSP00000516672.1:p.Met879Thr
ENST00000638521.1:c.429T>C
ENST00000640694.1:c.2477T>C ENSP00000492403.1:p.Met826Thr
ENST00000642864.1:c.2477T>C MANE Select ENSP00000495726.1:p.Met826Thr
ENST00000674510.1:c.2477T>C ENSP00000502054.1:p.Met826Thr
ENST00000674761.1:n.228T>C
ENST00000675719.1:c.2447T>C ENSP00000501927.1:p.Met816Thr
ENST00000375365.2:c.1862T>C ENSP00000364514.2:p.Met621Thr
ENST00000396435.7:c.2477T>C ENSP00000379712.3:p.Met826Thr
NM_001111125.2:c.2477T>C NP_001104595.1:p.Met826Thr
NM_015075.1:c.1862T>C NP_055890.1:p.Met621Thr
XM_006724579.2:c.2573T>C XP_006724642.1:p.Met858Thr
XM_006724580.2:c.1862T>C XP_006724643.1:p.Met621Thr
XM_006724581.2:c.2573T>C XP_006724644.1:p.Met858Thr
XM_006724582.2:c.2573T>C XP_006724645.1:p.Met858Thr
XM_006724583.2:c.2573T>C XP_006724646.1:p.Met858Thr
XM_006724584.2:c.2573T>C XP_006724647.1:p.Met858Thr
XM_011530772.1:c.1799T>C XP_011529074.1:p.Met600Thr
XM_011530773.1:c.1766T>C XP_011529075.1:p.Met589Thr
XM_011530774.1:c.2573T>C XP_011529076.1:p.Met858Thr
XM_011530775.1:c.2573T>C XP_011529077.1:p.Met858Thr
XM_011530776.1:c.2573T>C XP_011529078.1:p.Met858Thr
XM_011530777.1:c.2573T>C XP_011529079.1:p.Met858Thr
XR_938365.1:n.2800T>C
XM_006724579.3:c.2573T>C XP_006724642.1:p.Met858Thr
XM_006724580.3:c.1862T>C XP_006724643.1:p.Met621Thr
XM_006724581.4:c.2573T>C XP_006724644.1:p.Met858Thr
XM_006724582.4:c.2573T>C XP_006724645.1:p.Met858Thr
XM_006724583.4:c.2573T>C XP_006724646.1:p.Met858Thr
XM_006724584.3:c.2573T>C XP_006724647.1:p.Met858Thr
XM_011530773.2:c.1766T>C XP_011529075.1:p.Met589Thr
XM_011530774.3:c.2573T>C XP_011529076.1:p.Met858Thr
XM_011530776.2:c.2573T>C XP_011529078.1:p.Met858Thr
XM_011530777.2:c.2573T>C XP_011529079.1:p.Met858Thr
XM_017029359.2:c.2447T>C XP_016884848.1:p.Met816Thr
XM_017029360.1:c.1979T>C XP_016884849.1:p.Met660Thr
XR_938365.2:n.2794T>C
NM_001111125.3:c.2477T>C MANE Select NP_001104595.1:p.Met826Thr
NM_015075.2:c.1862T>C NP_055890.1:p.Met621Thr