Canonical Allele Identifier: CA2429774930

Gene: IQSEC2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53248185G= , CM000685.2:g.53248185G=	GRCh38
NC_000023.10:g.53277367G= , CM000685.1:g.53277367G=	GRCh37
NC_000023.9:g.53294092G=	NCBI36
NG_021296.1:g.78156C=
NG_021296.2:g.78166C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.2670C=	ENSP00000516672.1:p.Leu890=
ENST00000638521.1:c.463C=
ENST00000640694.1:c.2511C=	ENSP00000492403.1:p.Leu837=
ENST00000642864.1:c.2511C= MANE Select	ENSP00000495726.1:p.Leu837=
ENST00000674510.1:c.2511C=	ENSP00000502054.1:p.Leu837=
ENST00000674761.1:n.262C=
ENST00000675719.1:c.2481C=	ENSP00000501927.1:p.Leu827=
ENST00000375365.2:c.1896C=	ENSP00000364514.2:p.Leu632=
ENST00000396435.7:c.2511C=	ENSP00000379712.3:p.Leu837=
NM_001111125.2:c.2511C=	NP_001104595.1:p.Leu837=
NM_015075.1:c.1896C=	NP_055890.1:p.Leu632=
XM_006724579.2:c.2607C=	XP_006724642.1:p.Leu869=
XM_006724580.2:c.1896C=	XP_006724643.1:p.Leu632=
XM_006724581.2:c.2607C=	XP_006724644.1:p.Leu869=
XM_006724582.2:c.2607C=	XP_006724645.1:p.Leu869=
XM_006724583.2:c.2607C=	XP_006724646.1:p.Leu869=
XM_006724584.2:c.2607C=	XP_006724647.1:p.Leu869=
XM_011530772.1:c.1833C=	XP_011529074.1:p.Leu611=
XM_011530773.1:c.1800C=	XP_011529075.1:p.Leu600=
XM_011530774.1:c.2607C=	XP_011529076.1:p.Leu869=
XM_011530775.1:c.2607C=	XP_011529077.1:p.Leu869=
XM_011530776.1:c.2607C=	XP_011529078.1:p.Leu869=
XM_011530777.1:c.2607C=	XP_011529079.1:p.Leu869=
XR_938365.1:n.2834C=
XM_006724579.3:c.2607C=	XP_006724642.1:p.Leu869=
XM_006724580.3:c.1896C=	XP_006724643.1:p.Leu632=
XM_006724581.4:c.2607C=	XP_006724644.1:p.Leu869=
XM_006724582.4:c.2607C=	XP_006724645.1:p.Leu869=
XM_006724583.4:c.2607C=	XP_006724646.1:p.Leu869=
XM_006724584.3:c.2607C=	XP_006724647.1:p.Leu869=
XM_011530773.2:c.1800C=	XP_011529075.1:p.Leu600=
XM_011530774.3:c.2607C=	XP_011529076.1:p.Leu869=
XM_011530776.2:c.2607C=	XP_011529078.1:p.Leu869=
XM_011530777.2:c.2607C=	XP_011529079.1:p.Leu869=
XM_017029359.2:c.2481C=	XP_016884848.1:p.Leu827=
XM_017029360.1:c.2013C=	XP_016884849.1:p.Leu671=
XR_938365.2:n.2828C=
NM_001111125.3:c.2511C= MANE Select	NP_001104595.1:p.Leu837=
NM_015075.2:c.1896C=	NP_055890.1:p.Leu632=