Canonical Allele Identifier: CA1245139177
Gene: EIF2AK2 HGNC NCBI
ARL14EPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1675653367

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37149035_37149043del , CM000664.2:g.37149035_37149043del GRCh38
NC_000002.11:g.37376178_37376186del , CM000664.1:g.37376178_37376186del GRCh37
NC_000002.10:g.37229682_37229690del NCBI36
NG_030351.1:g.13011_13019del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233057.9:c.-183-14_-183-6del (EIF2AK2) MANE Select ENSP00000233057.4:n.-183-14_-183-6del
ENST00000411537.7:n.29-14_29-6del (EIF2AK2)
ENST00000679507.1:c.-16-1215_-16-1207del (EIF2AK2) ENSP00000506024.1:n.-16-1215_-16-1207del
ENST00000679979.1:c.-183-14_-183-6del (EIF2AK2) ENSP00000506455.1:n.-183-14_-183-6del
ENST00000680273.1:c.-183-14_-183-6del (EIF2AK2) ENSP00000506203.1:n.-183-14_-183-6del
ENST00000681329.1:n.157-14_157-6del (EIF2AK2)
ENST00000681463.1:c.-75-122_-75-114del (EIF2AK2) ENSP00000505138.1:n.-75-122_-75-114del
ENST00000681507.1:c.-99-98_-99-90del (EIF2AK2) ENSP00000505772.1:n.-99-98_-99-90del
ENST00000233057.8:c.-183-14_-183-6del (EIF2AK2) ENSP00000233057.4:n.-183-14_-183-6del
ENST00000390013.3:c.-99-98_-99-90del (EIF2AK2) ENSP00000374663.3:n.-99-98_-99-90del
ENST00000395127.6:c.-197_-189del (EIF2AK2) ENSP00000378559.2:n.-197_-189del
ENST00000411537.6:c.-75-122_-75-114del (EIF2AK2) ENSP00000393921.2:n.-75-122_-75-114del
ENST00000412776.1:n.506_514del (ARL14EPP1)
NM_001135651.2:c.-183-14_-183-6del (EIF2AK2) NP_001129123.1:n.-183-14_-183-6del
NM_002759.3:c.-197_-189del (EIF2AK2) NP_002750.1:n.-197_-189del
XM_011532987.1:c.-99-98_-99-90del (EIF2AK2) XP_011531289.1:n.-99-98_-99-90del
XM_011532987.2:c.-99-98_-99-90del (EIF2AK2) XP_011531289.1:n.-99-98_-99-90del
XM_017004503.1:c.-183-14_-183-6del (EIF2AK2) XP_016859992.1:n.-183-14_-183-6del
NM_001135651.3:c.-183-14_-183-6del (EIF2AK2) MANE Select NP_001129123.1:n.-183-14_-183-6del
NM_002759.4:c.-197_-189del (EIF2AK2) NP_002750.1:n.-197_-189del