Canonical Allele Identifier: CA413140876
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53234902A>C , CM000685.2:g.53234902A>C GRCh38
NC_000023.10:g.53264084A>C , CM000685.1:g.53264084A>C GRCh37
NC_000023.9:g.53280809A>C NCBI36
NG_021296.1:g.91439T>G
NG_021296.2:g.91449T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.3943T>G ENSP00000516672.1:p.Ser1315Ala
ENST00000638521.1:c.1453+881T>G
ENST00000638869.1:c.962+881T>G
ENST00000639796.1:c.316+1420T>G ENSP00000492252.1:n.316+1420T>G
ENST00000640005.1:c.514+1420T>G ENSP00000491293.1:n.514+1420T>G
ENST00000640694.1:c.*269T>G ENSP00000492403.1:n.*269T>G
ENST00000642864.1:c.3784T>G MANE Select ENSP00000495726.1:p.Ser1262Ala
ENST00000674510.1:c.3784T>G ENSP00000502054.1:p.Ser1262Ala
ENST00000675719.1:c.3754T>G ENSP00000501927.1:p.Ser1252Ala
ENST00000375365.2:c.*269T>G ENSP00000364514.2:n.*269T>G
ENST00000396435.7:c.3784T>G ENSP00000379712.3:p.Ser1262Ala
NM_001111125.2:c.3784T>G NP_001104595.1:p.Ser1262Ala
NM_015075.1:c.*269T>G NP_055890.1:n.*269T>G
XM_006724579.2:c.3880T>G XP_006724642.1:p.Ser1294Ala
XM_006724580.2:c.3169T>G XP_006724643.1:p.Ser1057Ala
XM_006724581.2:c.3597+881T>G XP_006724644.1:n.3597+881T>G
XM_006724582.2:c.3597+881T>G XP_006724645.1:n.3597+881T>G
XM_006724583.2:c.3547+1420T>G XP_006724646.1:n.3547+1420T>G
XM_006724584.2:c.*269T>G XP_006724647.1:n.*269T>G
XM_011530772.1:c.3106T>G XP_011529074.1:p.Ser1036Ala
XM_011530773.1:c.3073T>G XP_011529075.1:p.Ser1025Ala
XM_011530775.1:c.3547+1420T>G XP_011529077.1:n.3547+1420T>G
XM_006724579.3:c.3880T>G XP_006724642.1:p.Ser1294Ala
XM_006724580.3:c.3169T>G XP_006724643.1:p.Ser1057Ala
XM_006724581.4:c.3597+881T>G XP_006724644.1:n.3597+881T>G
XM_006724582.4:c.3597+881T>G XP_006724645.1:n.3597+881T>G
XM_006724583.4:c.3547+1420T>G XP_006724646.1:n.3547+1420T>G
XM_006724584.3:c.*269T>G XP_006724647.1:n.*269T>G
XM_011530773.2:c.3073T>G XP_011529075.1:p.Ser1025Ala
XM_017029359.2:c.3754T>G XP_016884848.1:p.Ser1252Ala
XM_017029360.1:c.3286T>G XP_016884849.1:p.Ser1096Ala
NM_001111125.3:c.3784T>G MANE Select NP_001104595.1:p.Ser1262Ala
NM_015075.2:c.*269T>G NP_055890.1:n.*269T>G