Canonical Allele Identifier: CA10420030

Gene: IQSEC2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53250951C>A , CM000685.2:g.53250951C>A	GRCh38
NC_000023.10:g.53280133C>A , CM000685.1:g.53280133C>A	GRCh37
NC_000023.9:g.53296858C>A	NCBI36
NG_021296.1:g.75390G>T
NG_021296.2:g.75400G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001111125.3:c.1625G>T MANE Select	NP_001104595.1:p.Arg542Leu
ENST00000642864.1:c.1625G>T MANE Select	ENSP00000495726.1:p.Arg542Leu
NM_001111125.2:c.1625G>T	NP_001104595.1:p.Arg542Leu
NM_015075.1:c.1010G>T	NP_055890.1:p.Arg337Leu
NM_015075.2:c.1010G>T	NP_055890.1:p.Arg337Leu
ENST00000375365.2:c.1010G>T	ENSP00000364514.2:p.Arg337Leu
ENST00000396435.7:c.1625G>T	ENSP00000379712.3:p.Arg542Leu
ENST00000640694.1:c.1625G>T	ENSP00000492403.1:p.Arg542Leu
ENST00000674510.1:c.1625G>T	ENSP00000502054.1:p.Arg542Leu
ENST00000675719.1:c.1595G>T	ENSP00000501927.1:p.Arg532Leu
ENST00000706952.1:c.1784G>T	ENSP00000516672.1:p.Arg595Leu
XM_006724579.2:c.1721G>T	XP_006724642.1:p.Arg574Leu
XM_006724579.3:c.1721G>T	XP_006724642.1:p.Arg574Leu
XM_006724580.2:c.1010G>T	XP_006724643.1:p.Arg337Leu
XM_006724580.3:c.1010G>T	XP_006724643.1:p.Arg337Leu
XM_006724581.2:c.1721G>T	XP_006724644.1:p.Arg574Leu
XM_006724581.4:c.1721G>T	XP_006724644.1:p.Arg574Leu
XM_006724582.2:c.1721G>T	XP_006724645.1:p.Arg574Leu
XM_006724582.4:c.1721G>T	XP_006724645.1:p.Arg574Leu
XM_006724583.2:c.1721G>T	XP_006724646.1:p.Arg574Leu
XM_006724583.4:c.1721G>T	XP_006724646.1:p.Arg574Leu
XM_006724584.2:c.1721G>T	XP_006724647.1:p.Arg574Leu
XM_006724584.3:c.1721G>T	XP_006724647.1:p.Arg574Leu
XM_011530772.1:c.947G>T	XP_011529074.1:p.Arg316Leu
XM_011530773.1:c.914G>T	XP_011529075.1:p.Arg305Leu
XM_011530773.2:c.914G>T	XP_011529075.1:p.Arg305Leu
XM_011530774.1:c.1721G>T	XP_011529076.1:p.Arg574Leu
XM_011530774.3:c.1721G>T	XP_011529076.1:p.Arg574Leu
XM_011530775.1:c.1721G>T	XP_011529077.1:p.Arg574Leu
XM_011530776.1:c.1721G>T	XP_011529078.1:p.Arg574Leu
XM_011530776.2:c.1721G>T	XP_011529078.1:p.Arg574Leu
XM_011530777.1:c.1721G>T	XP_011529079.1:p.Arg574Leu
XM_011530777.2:c.1721G>T	XP_011529079.1:p.Arg574Leu
XM_017029359.2:c.1595G>T	XP_016884848.1:p.Arg532Leu
XM_017029360.1:c.1127G>T	XP_016884849.1:p.Arg376Leu
XR_938365.1:n.1948G>T
XR_938365.2:n.1942G>T