Canonical Allele Identifier: CA2658632557
Gene: EIF2AK2 HGNC NCBI
ARL14EPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37149273_37149275del , CM000664.2:g.37149273_37149275del GRCh38
NC_000002.11:g.37376416_37376418del , CM000664.1:g.37376416_37376418del GRCh37
NC_000002.10:g.37229920_37229922del NCBI36
NG_030351.1:g.12778_12780del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233057.9:c.-183-247_-183-245del (EIF2AK2) MANE Select ENSP00000233057.4:n.-183-247_-183-245del
ENST00000411537.7:n.29-247_29-245del (EIF2AK2)
ENST00000679507.1:c.-16-1448_-16-1446del (EIF2AK2) ENSP00000506024.1:n.-16-1448_-16-1446del
ENST00000679979.1:c.-183-247_-183-245del (EIF2AK2) ENSP00000506455.1:n.-183-247_-183-245del
ENST00000680273.1:c.-183-247_-183-245del (EIF2AK2) ENSP00000506203.1:n.-183-247_-183-245del
ENST00000681329.1:n.157-247_157-245del (EIF2AK2)
ENST00000681463.1:c.-75-355_-75-353del (EIF2AK2) ENSP00000505138.1:n.-75-355_-75-353del
ENST00000681507.1:c.-99-331_-99-329del (EIF2AK2) ENSP00000505772.1:n.-99-331_-99-329del
ENST00000233057.8:c.-183-247_-183-245del (EIF2AK2) ENSP00000233057.4:n.-183-247_-183-245del
ENST00000390013.3:c.-99-331_-99-329del (EIF2AK2) ENSP00000374663.3:n.-99-331_-99-329del
ENST00000395127.6:c.-417-13_-417-11del (EIF2AK2) ENSP00000378559.2:n.-417-13_-417-11del
ENST00000411537.6:c.-75-355_-75-353del (EIF2AK2) ENSP00000393921.2:n.-75-355_-75-353del
ENST00000412776.1:n.744_746del (ARL14EPP1)
NM_001135651.2:c.-183-247_-183-245del (EIF2AK2) NP_001129123.1:n.-183-247_-183-245del
NM_002759.3:c.-417-13_-417-11del (EIF2AK2) NP_002750.1:n.-417-13_-417-11del
XM_011532987.1:c.-99-331_-99-329del (EIF2AK2) XP_011531289.1:n.-99-331_-99-329del
XM_011532987.2:c.-99-331_-99-329del (EIF2AK2) XP_011531289.1:n.-99-331_-99-329del
XM_017004503.1:c.-183-247_-183-245del (EIF2AK2) XP_016859992.1:n.-183-247_-183-245del
NM_001135651.3:c.-183-247_-183-245del (EIF2AK2) MANE Select NP_001129123.1:n.-183-247_-183-245del
NM_002759.4:c.-417-13_-417-11del (EIF2AK2) NP_002750.1:n.-417-13_-417-11del