Canonical Allele Identifier: CA45469280
Gene: EIF2AK2 HGNC NCBI
ARL14EPP1 HGNC NCBI

Linked Data

dbSNP Id: rs932485462
gnomAD v2: 2-37376206-C-T
gnomAD v3: 2-37149063-C-T
gnomAD v4: 2-37149063-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37149063C>T , CM000664.2:g.37149063C>T GRCh38
NC_000002.11:g.37376206C>T , CM000664.1:g.37376206C>T GRCh37
NC_000002.10:g.37229710C>T NCBI36
NG_030351.1:g.12985G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000233057.9:c.-183-40G>A (EIF2AK2) MANE Select ENSP00000233057.4:n.-183-40G>A
ENST00000411537.7:n.29-40G>A (EIF2AK2)
ENST00000679507.1:c.-16-1241G>A (EIF2AK2) ENSP00000506024.1:n.-16-1241G>A
ENST00000679979.1:c.-183-40G>A (EIF2AK2) ENSP00000506455.1:n.-183-40G>A
ENST00000680273.1:c.-183-40G>A (EIF2AK2) ENSP00000506203.1:n.-183-40G>A
ENST00000681329.1:n.157-40G>A (EIF2AK2)
ENST00000681463.1:c.-75-148G>A (EIF2AK2) ENSP00000505138.1:n.-75-148G>A
ENST00000681507.1:c.-99-124G>A (EIF2AK2) ENSP00000505772.1:n.-99-124G>A
ENST00000233057.8:c.-183-40G>A (EIF2AK2) ENSP00000233057.4:n.-183-40G>A
ENST00000390013.3:c.-99-124G>A (EIF2AK2) ENSP00000374663.3:n.-99-124G>A
ENST00000395127.6:c.-223G>A (EIF2AK2) ENSP00000378559.2:n.-223G>A
ENST00000411537.6:c.-75-148G>A (EIF2AK2) ENSP00000393921.2:n.-75-148G>A
ENST00000412776.1:n.534C>T (ARL14EPP1)
NM_001135651.2:c.-183-40G>A (EIF2AK2) NP_001129123.1:n.-183-40G>A
NM_002759.3:c.-223G>A (EIF2AK2) NP_002750.1:n.-223G>A
XM_011532987.1:c.-99-124G>A (EIF2AK2) XP_011531289.1:n.-99-124G>A
XM_011532987.2:c.-99-124G>A (EIF2AK2) XP_011531289.1:n.-99-124G>A
XM_017004503.1:c.-183-40G>A (EIF2AK2) XP_016859992.1:n.-183-40G>A
NM_001135651.3:c.-183-40G>A (EIF2AK2) MANE Select NP_001129123.1:n.-183-40G>A
NM_002759.4:c.-223G>A (EIF2AK2) NP_002750.1:n.-223G>A