Canonical Allele Identifier: CA1245139081
Gene: EIF2AK2 HGNC NCBI
ARL14EPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37148780_37148781delinsAG , CM000664.2:g.37148780_37148781delinsAG GRCh38
NC_000002.11:g.37375923_37375924delinsAG , CM000664.1:g.37375923_37375924delinsAG GRCh37
NC_000002.10:g.37229427_37229428delinsAG NCBI36
NG_030351.1:g.13267_13268delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000233057.9:c.-17+76_-17+77delinsCT (EIF2AK2) MANE Select ENSP00000233057.4:n.-17+76_-17+77delinsCT
ENST00000411537.7:n.195+76_195+77delinsCT (EIF2AK2)
ENST00000647926.1:c.-17+76_-17+77delinsCT (EIF2AK2) ENSP00000497534.1:n.-17+76_-17+77delinsCT
ENST00000679507.1:c.-16-959_-16-958delinsCT (EIF2AK2) ENSP00000506024.1:n.-16-959_-16-958delinsCT
ENST00000679979.1:c.-17+76_-17+77delinsCT (EIF2AK2) ENSP00000506455.1:n.-17+76_-17+77delinsCT
ENST00000680273.1:c.-17+76_-17+77delinsCT (EIF2AK2) ENSP00000506203.1:n.-17+76_-17+77delinsCT
ENST00000681329.1:n.323+76_323+77delinsCT (EIF2AK2)
ENST00000681463.1:c.-17+76_-17+77delinsCT (EIF2AK2) ENSP00000505138.1:n.-17+76_-17+77delinsCT
ENST00000681507.1:c.-17+76_-17+77delinsCT (EIF2AK2) ENSP00000505772.1:n.-17+76_-17+77delinsCT
ENST00000681516.1:c.-17+76_-17+77delinsCT (EIF2AK2) ENSP00000506573.1:n.-17+76_-17+77delinsCT
ENST00000233057.8:c.-17+76_-17+77delinsCT (EIF2AK2) ENSP00000233057.4:n.-17+76_-17+77delinsCT
ENST00000390013.3:c.-17+76_-17+77delinsCT (EIF2AK2) ENSP00000374663.3:n.-17+76_-17+77delinsCT
ENST00000395127.6:c.-17+76_-17+77delinsCT (EIF2AK2) ENSP00000378559.2:n.-17+76_-17+77delinsCT
ENST00000411537.6:c.-17+76_-17+77delinsCT (EIF2AK2) ENSP00000393921.2:n.-17+76_-17+77delinsCT
ENST00000412776.1:n.251_252delinsAG (ARL14EPP1)
NM_001135651.2:c.-17+76_-17+77delinsCT (EIF2AK2) NP_001129123.1:n.-17+76_-17+77delinsCT
NM_002759.3:c.-17+76_-17+77delinsCT (EIF2AK2) NP_002750.1:n.-17+76_-17+77delinsCT
XM_011532987.1:c.-17+76_-17+77delinsCT (EIF2AK2) XP_011531289.1:n.-17+76_-17+77delinsCT
XM_011532987.2:c.-17+76_-17+77delinsCT (EIF2AK2) XP_011531289.1:n.-17+76_-17+77delinsCT
XM_017004503.1:c.-17+76_-17+77delinsCT (EIF2AK2) XP_016859992.1:n.-17+76_-17+77delinsCT
NM_001135651.3:c.-17+76_-17+77delinsCT (EIF2AK2) MANE Select NP_001129123.1:n.-17+76_-17+77delinsCT
NM_002759.4:c.-17+76_-17+77delinsCT (EIF2AK2) NP_002750.1:n.-17+76_-17+77delinsCT