Canonical Allele Identifier: CA10419858
Gene: IQSEC2 HGNC NCBI

Linked Data

dbSNP Id: rs782206773
gnomAD v2: X-53270929-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53241747T>G , CM000685.2:g.53241747T>G GRCh38
NC_000023.10:g.53270929T>G , CM000685.1:g.53270929T>G GRCh37
NC_000023.9:g.53287654T>G NCBI36
NG_021296.1:g.84594A>C
NG_021296.2:g.84604A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706952.1:c.3174+37A>C ENSP00000516672.1:n.3174+37A>C
ENST00000638521.1:c.967+37A>C
ENST00000638869.1:c.476+37A>C
ENST00000639642.1:c.305+37A>C
ENST00000640005.1:c.78+37A>C ENSP00000491293.1:n.78+37A>C
ENST00000640694.1:c.3015+37A>C ENSP00000492403.1:n.3015+37A>C
ENST00000642864.1:c.3015+37A>C MANE Select ENSP00000495726.1:n.3015+37A>C
ENST00000674510.1:c.3015+37A>C ENSP00000502054.1:n.3015+37A>C
ENST00000674761.1:n.1359A>C
ENST00000675719.1:c.2985+37A>C ENSP00000501927.1:n.2985+37A>C
ENST00000375365.2:c.2400+37A>C ENSP00000364514.2:n.2400+37A>C
ENST00000396435.7:c.3015+37A>C ENSP00000379712.3:n.3015+37A>C
NM_001111125.2:c.3015+37A>C NP_001104595.1:n.3015+37A>C
NM_015075.1:c.2400+37A>C NP_055890.1:n.2400+37A>C
XM_006724579.2:c.3111+37A>C XP_006724642.1:n.3111+37A>C
XM_006724580.2:c.2400+37A>C XP_006724643.1:n.2400+37A>C
XM_006724581.2:c.3111+37A>C XP_006724644.1:n.3111+37A>C
XM_006724582.2:c.3111+37A>C XP_006724645.1:n.3111+37A>C
XM_006724583.2:c.3111+37A>C XP_006724646.1:n.3111+37A>C
XM_006724584.2:c.3111+37A>C XP_006724647.1:n.3111+37A>C
XM_011530772.1:c.2337+37A>C XP_011529074.1:n.2337+37A>C
XM_011530773.1:c.2304+37A>C XP_011529075.1:n.2304+37A>C
XM_011530774.1:c.3111+37A>C XP_011529076.1:n.3111+37A>C
XM_011530775.1:c.3111+37A>C XP_011529077.1:n.3111+37A>C
XM_011530776.1:c.3111+37A>C XP_011529078.1:n.3111+37A>C
XM_011530777.1:c.3111+37A>C XP_011529079.1:n.3111+37A>C
XR_938365.1:n.3338+37A>C
XM_006724579.3:c.3111+37A>C XP_006724642.1:n.3111+37A>C
XM_006724580.3:c.2400+37A>C XP_006724643.1:n.2400+37A>C
XM_006724581.4:c.3111+37A>C XP_006724644.1:n.3111+37A>C
XM_006724582.4:c.3111+37A>C XP_006724645.1:n.3111+37A>C
XM_006724583.4:c.3111+37A>C XP_006724646.1:n.3111+37A>C
XM_006724584.3:c.3111+37A>C XP_006724647.1:n.3111+37A>C
XM_011530773.2:c.2304+37A>C XP_011529075.1:n.2304+37A>C
XM_011530774.3:c.3111+37A>C XP_011529076.1:n.3111+37A>C
XM_011530776.2:c.3111+37A>C XP_011529078.1:n.3111+37A>C
XM_011530777.2:c.3111+37A>C XP_011529079.1:n.3111+37A>C
XM_017029359.2:c.2985+37A>C XP_016884848.1:n.2985+37A>C
XM_017029360.1:c.2517+37A>C XP_016884849.1:n.2517+37A>C
XR_938365.2:n.3332+37A>C
NM_001111125.3:c.3015+37A>C MANE Select NP_001104595.1:n.3015+37A>C
NM_015075.2:c.2400+37A>C NP_055890.1:n.2400+37A>C