Canonical Allele Identifier: CA1245139176
Gene: EIF2AK2 HGNC NCBI
ARL14EPP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37149028_37149037delinsTAAAAGAGAA , CM000664.2:g.37149028_37149037delinsTAAAAGAGAA GRCh38
NC_000002.11:g.37376171_37376180delinsTAAAAGAGAA , CM000664.1:g.37376171_37376180delinsTAAAAGAGAA GRCh37
NC_000002.10:g.37229675_37229684delinsTAAAAGAGAA NCBI36
NG_030351.1:g.13011_13020delinsTTCTCTTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000233057.9:c.-183-14_-183-5delinsTTCTCTTTTA (EIF2AK2) MANE Select ENSP00000233057.4:n.-183-14_-183-5delinsTTCTCTTTTA
ENST00000411537.7:n.29-14_29-5delinsTTCTCTTTTA (EIF2AK2)
ENST00000679507.1:c.-16-1215_-16-1206delinsTTCTCTTTTA (EIF2AK2) ENSP00000506024.1:n.-16-1215_-16-1206delinsTTCTCTTTTA
ENST00000679979.1:c.-183-14_-183-5delinsTTCTCTTTTA (EIF2AK2) ENSP00000506455.1:n.-183-14_-183-5delinsTTCTCTTTTA
ENST00000680273.1:c.-183-14_-183-5delinsTTCTCTTTTA (EIF2AK2) ENSP00000506203.1:n.-183-14_-183-5delinsTTCTCTTTTA
ENST00000681329.1:n.157-14_157-5delinsTTCTCTTTTA (EIF2AK2)
ENST00000681463.1:c.-75-122_-75-113delinsTTCTCTTTTA (EIF2AK2) ENSP00000505138.1:n.-75-122_-75-113delinsTTCTCTTTTA
ENST00000681507.1:c.-99-98_-99-89delinsTTCTCTTTTA (EIF2AK2) ENSP00000505772.1:n.-99-98_-99-89delinsTTCTCTTTTA
ENST00000233057.8:c.-183-14_-183-5delinsTTCTCTTTTA (EIF2AK2) ENSP00000233057.4:n.-183-14_-183-5delinsTTCTCTTTTA
ENST00000390013.3:c.-99-98_-99-89delinsTTCTCTTTTA (EIF2AK2) ENSP00000374663.3:n.-99-98_-99-89delinsTTCTCTTTTA
ENST00000395127.6:c.-197_-188delinsTTCTCTTTTA (EIF2AK2) ENSP00000378559.2:n.-197_-188delinsTTCTCTTTTA
ENST00000411537.6:c.-75-122_-75-113delinsTTCTCTTTTA (EIF2AK2) ENSP00000393921.2:n.-75-122_-75-113delinsTTCTCTTTTA
ENST00000412776.1:n.499_508delinsTAAAAGAGAA (ARL14EPP1)
NM_001135651.2:c.-183-14_-183-5delinsTTCTCTTTTA (EIF2AK2) NP_001129123.1:n.-183-14_-183-5delinsTTCTCTTTTA
NM_002759.3:c.-197_-188delinsTTCTCTTTTA (EIF2AK2) NP_002750.1:n.-197_-188delinsTTCTCTTTTA
XM_011532987.1:c.-99-98_-99-89delinsTTCTCTTTTA (EIF2AK2) XP_011531289.1:n.-99-98_-99-89delinsTTCTCTTTTA
XM_011532987.2:c.-99-98_-99-89delinsTTCTCTTTTA (EIF2AK2) XP_011531289.1:n.-99-98_-99-89delinsTTCTCTTTTA
XM_017004503.1:c.-183-14_-183-5delinsTTCTCTTTTA (EIF2AK2) XP_016859992.1:n.-183-14_-183-5delinsTTCTCTTTTA
NM_001135651.3:c.-183-14_-183-5delinsTTCTCTTTTA (EIF2AK2) MANE Select NP_001129123.1:n.-183-14_-183-5delinsTTCTCTTTTA
NM_002759.4:c.-197_-188delinsTTCTCTTTTA (EIF2AK2) NP_002750.1:n.-197_-188delinsTTCTCTTTTA
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