Canonical Allele Identifier: CA516673659
Gene: IQSEC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.53263992T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53234810T>C , CM000685.2:g.53234810T>C GRCh38
NC_000023.10:g.53263992T>C , CM000685.1:g.53263992T>C GRCh37
NC_000023.9:g.53280717T>C NCBI36
NG_021296.1:g.91531A>G
NG_021296.2:g.91541A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706952.1:c.4035A>G ENSP00000516672.1:p.Pro1345=
ENST00000638521.1:c.1453+973A>G
ENST00000638869.1:c.962+973A>G
ENST00000639796.1:c.316+1512A>G ENSP00000492252.1:n.316+1512A>G
ENST00000640005.1:c.514+1512A>G ENSP00000491293.1:n.514+1512A>G
ENST00000640694.1:c.*361A>G ENSP00000492403.1:n.*361A>G
ENST00000642864.1:c.3876A>G MANE Select ENSP00000495726.1:p.Pro1292=
ENST00000674510.1:c.3876A>G ENSP00000502054.1:p.Pro1292=
ENST00000675719.1:c.3846A>G ENSP00000501927.1:p.Pro1282=
ENST00000375365.2:c.*361A>G ENSP00000364514.2:n.*361A>G
ENST00000396435.7:c.3876A>G ENSP00000379712.3:p.Pro1292=
NM_001111125.2:c.3876A>G NP_001104595.1:p.Pro1292=
NM_015075.1:c.*361A>G NP_055890.1:n.*361A>G
XM_006724579.2:c.3972A>G XP_006724642.1:p.Pro1324=
XM_006724580.2:c.3261A>G XP_006724643.1:p.Pro1087=
XM_006724581.2:c.3597+973A>G XP_006724644.1:n.3597+973A>G
XM_006724582.2:c.3597+973A>G XP_006724645.1:n.3597+973A>G
XM_006724583.2:c.3547+1512A>G XP_006724646.1:n.3547+1512A>G
XM_006724584.2:c.*361A>G XP_006724647.1:n.*361A>G
XM_011530772.1:c.3198A>G XP_011529074.1:p.Pro1066=
XM_011530773.1:c.3165A>G XP_011529075.1:p.Pro1055=
XM_011530775.1:c.3547+1512A>G XP_011529077.1:n.3547+1512A>G
XM_006724579.3:c.3972A>G XP_006724642.1:p.Pro1324=
XM_006724580.3:c.3261A>G XP_006724643.1:p.Pro1087=
XM_006724581.4:c.3597+973A>G XP_006724644.1:n.3597+973A>G
XM_006724582.4:c.3597+973A>G XP_006724645.1:n.3597+973A>G
XM_006724583.4:c.3547+1512A>G XP_006724646.1:n.3547+1512A>G
XM_006724584.3:c.*361A>G XP_006724647.1:n.*361A>G
XM_011530773.2:c.3165A>G XP_011529075.1:p.Pro1055=
XM_017029359.2:c.3846A>G XP_016884848.1:p.Pro1282=
XM_017029360.1:c.3378A>G XP_016884849.1:p.Pro1126=
NM_001111125.3:c.3876A>G MANE Select NP_001104595.1:p.Pro1292=
NM_015075.2:c.*361A>G NP_055890.1:n.*361A>G