Canonical Allele Identifier: CA425670318
Gene: EIF2AK2 HGNC NCBI
ARL14EPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1675652493
MyVariant Identifiers: chr2:g.37376136C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37148993C>T , CM000664.2:g.37148993C>T GRCh38
NC_000002.11:g.37376136C>T , CM000664.1:g.37376136C>T GRCh37
NC_000002.10:g.37229640C>T NCBI36
NG_030351.1:g.13055G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233057.9:c.-153G>A (EIF2AK2) MANE Select ENSP00000233057.4:n.-153G>A
ENST00000411537.7:n.59G>A (EIF2AK2)
ENST00000679507.1:c.-16-1171G>A (EIF2AK2) ENSP00000506024.1:n.-16-1171G>A
ENST00000679979.1:c.-153G>A (EIF2AK2) ENSP00000506455.1:n.-153G>A
ENST00000680273.1:c.-153G>A (EIF2AK2) ENSP00000506203.1:n.-153G>A
ENST00000681329.1:n.187G>A (EIF2AK2)
ENST00000681463.1:c.-75-78G>A (EIF2AK2) ENSP00000505138.1:n.-75-78G>A
ENST00000681507.1:c.-99-54G>A (EIF2AK2) ENSP00000505772.1:n.-99-54G>A
ENST00000233057.8:c.-153G>A (EIF2AK2) ENSP00000233057.4:n.-153G>A
ENST00000390013.3:c.-99-54G>A (EIF2AK2) ENSP00000374663.3:n.-99-54G>A
ENST00000395127.6:c.-153G>A (EIF2AK2) ENSP00000378559.2:n.-153G>A
ENST00000411537.6:c.-75-78G>A (EIF2AK2) ENSP00000393921.2:n.-75-78G>A
ENST00000412776.1:n.464C>T (ARL14EPP1)
NM_001135651.2:c.-153G>A (EIF2AK2) NP_001129123.1:n.-153G>A
NM_002759.3:c.-153G>A (EIF2AK2) NP_002750.1:n.-153G>A
XM_011532987.1:c.-99-54G>A (EIF2AK2) XP_011531289.1:n.-99-54G>A
XM_011532987.2:c.-99-54G>A (EIF2AK2) XP_011531289.1:n.-99-54G>A
XM_017004503.1:c.-153G>A (EIF2AK2) XP_016859992.1:n.-153G>A
NM_001135651.3:c.-153G>A (EIF2AK2) MANE Select NP_001129123.1:n.-153G>A
NM_002759.4:c.-153G>A (EIF2AK2) NP_002750.1:n.-153G>A