Canonical Allele Identifier: CA413148577
Gene: IQSEC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53241788A>T , CM000685.2:g.53241788A>T GRCh38
NC_000023.10:g.53270970A>T , CM000685.1:g.53270970A>T GRCh37
NC_000023.9:g.53287695A>T NCBI36
NG_021296.1:g.84553T>A
NG_021296.2:g.84563T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3170T>A ENSP00000516672.1:p.Leu1057His
ENST00000638521.1:c.963T>A
ENST00000638869.1:c.472T>A
ENST00000639642.1:c.301T>A
ENST00000640005.1:c.74T>A ENSP00000491293.1:p.Leu25His
ENST00000640694.1:c.3011T>A ENSP00000492403.1:p.Leu1004His
ENST00000642864.1:c.3011T>A MANE Select ENSP00000495726.1:p.Leu1004His
ENST00000674510.1:c.3011T>A ENSP00000502054.1:p.Leu1004His
ENST00000674761.1:n.1318T>A
ENST00000675719.1:c.2981T>A ENSP00000501927.1:p.Leu994His
ENST00000375365.2:c.2396T>A ENSP00000364514.2:p.Leu799His
ENST00000396435.7:c.3011T>A ENSP00000379712.3:p.Leu1004His
NM_001111125.2:c.3011T>A NP_001104595.1:p.Leu1004His
NM_015075.1:c.2396T>A NP_055890.1:p.Leu799His
XM_006724579.2:c.3107T>A XP_006724642.1:p.Leu1036His
XM_006724580.2:c.2396T>A XP_006724643.1:p.Leu799His
XM_006724581.2:c.3107T>A XP_006724644.1:p.Leu1036His
XM_006724582.2:c.3107T>A XP_006724645.1:p.Leu1036His
XM_006724583.2:c.3107T>A XP_006724646.1:p.Leu1036His
XM_006724584.2:c.3107T>A XP_006724647.1:p.Leu1036His
XM_011530772.1:c.2333T>A XP_011529074.1:p.Leu778His
XM_011530773.1:c.2300T>A XP_011529075.1:p.Leu767His
XM_011530774.1:c.3107T>A XP_011529076.1:p.Leu1036His
XM_011530775.1:c.3107T>A XP_011529077.1:p.Leu1036His
XM_011530776.1:c.3107T>A XP_011529078.1:p.Leu1036His
XM_011530777.1:c.3107T>A XP_011529079.1:p.Leu1036His
XR_938365.1:n.3334T>A
XM_006724579.3:c.3107T>A XP_006724642.1:p.Leu1036His
XM_006724580.3:c.2396T>A XP_006724643.1:p.Leu799His
XM_006724581.4:c.3107T>A XP_006724644.1:p.Leu1036His
XM_006724582.4:c.3107T>A XP_006724645.1:p.Leu1036His
XM_006724583.4:c.3107T>A XP_006724646.1:p.Leu1036His
XM_006724584.3:c.3107T>A XP_006724647.1:p.Leu1036His
XM_011530773.2:c.2300T>A XP_011529075.1:p.Leu767His
XM_011530774.3:c.3107T>A XP_011529076.1:p.Leu1036His
XM_011530776.2:c.3107T>A XP_011529078.1:p.Leu1036His
XM_011530777.2:c.3107T>A XP_011529079.1:p.Leu1036His
XM_017029359.2:c.2981T>A XP_016884848.1:p.Leu994His
XM_017029360.1:c.2513T>A XP_016884849.1:p.Leu838His
XR_938365.2:n.3328T>A
NM_001111125.3:c.3011T>A MANE Select NP_001104595.1:p.Leu1004His
NM_015075.2:c.2396T>A NP_055890.1:p.Leu799His