Canonical Allele Identifier: CA2429770563
Gene: IQSEC2 HGNC NCBI

Linked Data

dbSNP Id: rs2074098473

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53234702_53234703insCACTTCATCTTCAGCCACCACCC , CM000685.2:g.53234702_53234703insCACTTCATCTTCAGCCACCACCC GRCh38
NC_000023.10:g.53263884_53263885insCACTTCATCTTCAGCCACCACCC , CM000685.1:g.53263884_53263885insCACTTCATCTTCAGCCACCACCC GRCh37
NC_000023.9:g.53280609_53280610insCACTTCATCTTCAGCCACCACCC NCBI36
NG_021296.1:g.91638_91639insGGGTGGTGGCTGAAGATGAAGTG
NG_021296.2:g.91648_91649insGGGTGGTGGCTGAAGATGAAGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.4142_4143insGGGTGGTGGCTGAAGATGAAGTG ENSP00000516672.1:p.Pro1382GlyfsTer4
ENST00000638521.1:c.1453+1080_1453+1081insGGGTGGTGGCTGAAGATGAAGTG
ENST00000638869.1:c.962+1080_962+1081insGGGTGGTGGCTGAAGATGAAGTG
ENST00000639796.1:c.316+1619_316+1620insGGGTGGTGGCTGAAGATGAAGTG ENSP00000492252.1:n.316+1619_316+1620insGGGTGGTGGCTGAAGATGAAG...
ENST00000640005.1:c.514+1619_514+1620insGGGTGGTGGCTGAAGATGAAGTG ENSP00000491293.1:n.514+1619_514+1620insGGGTGGTGGCTGAAGATGAAG...
ENST00000640694.1:c.*468_*469insGGGTGGTGGCTGAAGATGAAGTG ENSP00000492403.1:n.*468_*469insGGGTGGTGGCTGAAGATGAAGTG
ENST00000642864.1:c.3983_3984insGGGTGGTGGCTGAAGATGAAGTG MANE Select ENSP00000495726.1:p.Pro1329GlyfsTer4
ENST00000674510.1:c.3983_3984insGGGTGGTGGCTGAAGATGAAGTG ENSP00000502054.1:p.Pro1329GlyfsTer4
ENST00000675719.1:c.3953_3954insGGGTGGTGGCTGAAGATGAAGTG ENSP00000501927.1:p.Pro1319GlyfsTer4
ENST00000375365.2:c.*468_*469insGGGTGGTGGCTGAAGATGAAGTG ENSP00000364514.2:n.*468_*469insGGGTGGTGGCTGAAGATGAAGTG
ENST00000396435.7:c.3983_3984insGGGTGGTGGCTGAAGATGAAGTG ENSP00000379712.3:p.Pro1329GlyfsTer4
NM_001111125.2:c.3983_3984insGGGTGGTGGCTGAAGATGAAGTG NP_001104595.1:p.Pro1329GlyfsTer4
NM_015075.1:c.*468_*469insGGGTGGTGGCTGAAGATGAAGTG NP_055890.1:n.*468_*469insGGGTGGTGGCTGAAGATGAAGTG
XM_006724579.2:c.4079_4080insGGGTGGTGGCTGAAGATGAAGTG XP_006724642.1:p.Pro1361GlyfsTer4
XM_006724580.2:c.3368_3369insGGGTGGTGGCTGAAGATGAAGTG XP_006724643.1:p.Pro1124GlyfsTer4
XM_006724581.2:c.3597+1080_3597+1081insGGGTGGTGGCTGAAGATGAAGTG XP_006724644.1:n.3597+1080_3597+1081insGGGTGGTGGCTGAAGATGAAGT...
XM_006724582.2:c.3597+1080_3597+1081insGGGTGGTGGCTGAAGATGAAGTG XP_006724645.1:n.3597+1080_3597+1081insGGGTGGTGGCTGAAGATGAAGT...
XM_006724583.2:c.3547+1619_3547+1620insGGGTGGTGGCTGAAGATGAAGTG XP_006724646.1:n.3547+1619_3547+1620insGGGTGGTGGCTGAAGATGAAGT...
XM_006724584.2:c.*468_*469insGGGTGGTGGCTGAAGATGAAGTG XP_006724647.1:n.*468_*469insGGGTGGTGGCTGAAGATGAAGTG
XM_011530772.1:c.3305_3306insGGGTGGTGGCTGAAGATGAAGTG XP_011529074.1:p.Pro1103GlyfsTer4
XM_011530773.1:c.3272_3273insGGGTGGTGGCTGAAGATGAAGTG XP_011529075.1:p.Pro1092GlyfsTer4
XM_011530775.1:c.3547+1619_3547+1620insGGGTGGTGGCTGAAGATGAAGTG XP_011529077.1:n.3547+1619_3547+1620insGGGTGGTGGCTGAAGATGAAGT...
XM_006724579.3:c.4079_4080insGGGTGGTGGCTGAAGATGAAGTG XP_006724642.1:p.Pro1361GlyfsTer4
XM_006724580.3:c.3368_3369insGGGTGGTGGCTGAAGATGAAGTG XP_006724643.1:p.Pro1124GlyfsTer4
XM_006724581.4:c.3597+1080_3597+1081insGGGTGGTGGCTGAAGATGAAGTG XP_006724644.1:n.3597+1080_3597+1081insGGGTGGTGGCTGAAGATGAAGT...
XM_006724582.4:c.3597+1080_3597+1081insGGGTGGTGGCTGAAGATGAAGTG XP_006724645.1:n.3597+1080_3597+1081insGGGTGGTGGCTGAAGATGAAGT...
XM_006724583.4:c.3547+1619_3547+1620insGGGTGGTGGCTGAAGATGAAGTG XP_006724646.1:n.3547+1619_3547+1620insGGGTGGTGGCTGAAGATGAAGT...
XM_006724584.3:c.*468_*469insGGGTGGTGGCTGAAGATGAAGTG XP_006724647.1:n.*468_*469insGGGTGGTGGCTGAAGATGAAGTG
XM_011530773.2:c.3272_3273insGGGTGGTGGCTGAAGATGAAGTG XP_011529075.1:p.Pro1092GlyfsTer4
XM_017029359.2:c.3953_3954insGGGTGGTGGCTGAAGATGAAGTG XP_016884848.1:p.Pro1319GlyfsTer4
XM_017029360.1:c.3485_3486insGGGTGGTGGCTGAAGATGAAGTG XP_016884849.1:p.Pro1163GlyfsTer4
NM_001111125.3:c.3983_3984insGGGTGGTGGCTGAAGATGAAGTG MANE Select NP_001104595.1:p.Pro1329GlyfsTer4
NM_015075.2:c.*468_*469insGGGTGGTGGCTGAAGATGAAGTG NP_055890.1:n.*468_*469insGGGTGGTGGCTGAAGATGAAGTG